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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: 8-144882076-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144882076&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 5,
          "criteria": [
            "BP4_Strong",
            "BP7"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "ZNF250",
          "hgnc_id": 13044,
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "inheritance_mode": "AR",
          "pathogenic_score": 0,
          "score": -5,
          "transcript": "NM_021061.5",
          "verdict": "Likely_benign"
        }
      ],
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP7",
      "acmg_score": -5,
      "allele_count_reference_population": 37,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "T",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.66,
      "chr": "8",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.6600000262260437,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6337,
          "cdna_start": 1216,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001109689.4",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000417550.7",
          "protein_coding": true,
          "protein_id": "NP_001103159.1",
          "strand": false,
          "transcript": "NM_001109689.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 6337,
          "cdna_start": 1216,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000417550.7",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_001109689.4",
          "protein_coding": true,
          "protein_id": "ENSP00000393442.2",
          "strand": false,
          "transcript": "ENST00000417550.7",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6364,
          "cdna_start": 1239,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000292579.11",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000292579.7",
          "strand": false,
          "transcript": "ENST00000292579.11",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 561,
          "aa_ref": "K",
          "aa_start": 375,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2126,
          "cdna_start": 1206,
          "cds_end": null,
          "cds_length": 1686,
          "cds_start": 1125,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000940320.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1125G>A",
          "hgvs_p": "p.Lys375Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610379.1",
          "strand": false,
          "transcript": "ENST00000940320.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6414,
          "cdna_start": 1293,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001363098.2",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001350027.1",
          "strand": false,
          "transcript": "NM_001363098.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6726,
          "cdna_start": 1605,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001363099.2",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001350028.1",
          "strand": false,
          "transcript": "NM_001363099.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6352,
          "cdna_start": 1231,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_021061.5",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_066405.1",
          "strand": false,
          "transcript": "NM_021061.5",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2484,
          "cdna_start": 1293,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000862363.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000532421.1",
          "strand": false,
          "transcript": "ENST00000862363.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2954,
          "cdna_start": 1770,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000862364.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000532423.1",
          "strand": false,
          "transcript": "ENST00000862364.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1853,
          "cdna_start": 1223,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000862369.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000532428.1",
          "strand": false,
          "transcript": "ENST00000862369.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2455,
          "cdna_start": 1526,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000940315.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610374.1",
          "strand": false,
          "transcript": "ENST00000940315.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2803,
          "cdna_start": 1612,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 8,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000940316.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610375.1",
          "strand": false,
          "transcript": "ENST00000940316.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 560,
          "aa_ref": "K",
          "aa_start": 374,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2506,
          "cdna_start": 1321,
          "cds_end": null,
          "cds_length": 1683,
          "cds_start": 1122,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000956450.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1122G>A",
          "hgvs_p": "p.Lys374Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000626509.1",
          "strand": false,
          "transcript": "ENST00000956450.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6711,
          "cdna_start": 1590,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001363100.2",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001350029.1",
          "strand": false,
          "transcript": "NM_001363100.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6399,
          "cdna_start": 1278,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001363101.2",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001350030.1",
          "strand": false,
          "transcript": "NM_001363101.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6427,
          "cdna_start": 1306,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "NM_001363102.2",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001350031.1",
          "strand": false,
          "transcript": "NM_001363102.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6448,
          "cdna_start": 1327,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001363103.2",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001350032.1",
          "strand": false,
          "transcript": "NM_001363103.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2274,
          "cdna_start": 1208,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000862366.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
          "hgvs_p": "p.Lys369Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000532425.1",
          "strand": false,
          "transcript": "ENST00000862366.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 555,
          "aa_ref": "K",
          "aa_start": 369,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2354,
          "cdna_start": 1724,
          "cds_end": null,
          "cds_length": 1668,
          "cds_start": 1107,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000862371.1",
          "gene_hgnc_id": 13044,
          "gene_symbol": "ZNF250",
          "hgvs_c": "c.1107G>A",
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}
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