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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: 8-17878362-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17878362&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 4,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "FGL1",
          "hgnc_id": 3695,
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "inheritance_mode": "AR",
          "pathogenic_score": 2,
          "score": -2,
          "transcript": "NM_004467.4",
          "verdict": "Likely_benign"
        }
      ],
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_score": -2,
      "allele_count_reference_population": 1,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "G",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.98,
      "chr": "8",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.9800000190734863,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1237,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_004467.4",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000427924.5",
          "protein_coding": true,
          "protein_id": "NP_004458.3",
          "strand": false,
          "transcript": "NM_004467.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 1237,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000427924.5",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_004467.4",
          "protein_coding": true,
          "protein_id": "ENSP00000401952.1",
          "strand": false,
          "transcript": "ENST00000427924.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1335,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000381840.5",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000371262.2",
          "strand": false,
          "transcript": "ENST00000381840.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1374,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000381841.4",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000371263.2",
          "strand": false,
          "transcript": "ENST00000381841.4",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1367,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000522444.5",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000429757.1",
          "strand": false,
          "transcript": "ENST00000522444.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 325,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1261,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 978,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000904488.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574547.1",
          "strand": false,
          "transcript": "ENST00000904488.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1337,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_147203.2",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_671736.2",
          "strand": false,
          "transcript": "NM_147203.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1376,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_201552.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_963846.1",
          "strand": false,
          "transcript": "NM_201552.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1464,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_201553.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_963847.1",
          "strand": false,
          "transcript": "NM_201553.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1462,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000398054.5",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000381131.1",
          "strand": false,
          "transcript": "ENST00000398054.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1967,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000398056.6",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000381133.2",
          "strand": false,
          "transcript": "ENST00000398056.6",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1093,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000518650.5",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000428430.1",
          "strand": false,
          "transcript": "ENST00000518650.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2095,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 11,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000904467.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 6,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574526.1",
          "strand": false,
          "transcript": "ENST00000904467.1",
          "transcript_support_level": null
        },
        {
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          "aa_ref": null,
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          "biotype": "protein_coding",
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          "cdna_end": null,
          "cdna_length": 2332,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
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          ],
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          "feature": "ENST00000904468.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
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          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574527.1",
          "strand": false,
          "transcript": "ENST00000904468.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
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          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2553,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000904469.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574528.1",
          "strand": false,
          "transcript": "ENST00000904469.1",
          "transcript_support_level": null
        },
        {
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          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1393,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000904470.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574529.1",
          "strand": false,
          "transcript": "ENST00000904470.1",
          "transcript_support_level": null
        },
        {
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          "aa_ref": null,
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          "biotype": "protein_coding",
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          "cdna_end": null,
          "cdna_length": 1684,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000904472.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
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          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574531.1",
          "strand": false,
          "transcript": "ENST00000904472.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1559,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
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          "feature": "ENST00000904473.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574532.1",
          "strand": false,
          "transcript": "ENST00000904473.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1405,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000904477.1",
          "gene_hgnc_id": 3695,
          "gene_symbol": "FGL1",
          "hgvs_c": "c.244+3637G>C",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000574536.1",
          "strand": false,
          "transcript": "ENST00000904477.1",
          "transcript_support_level": null
        },
        {
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          "aa_ref": null,
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          "biotype": "protein_coding",
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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.