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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: 12-10702061-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10702061&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "YBX3",
          "hgnc_id": 2428,
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "inheritance_mode": "AR",
          "pathogenic_score": 2,
          "score": 0,
          "transcript": "NM_003651.5",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_score": 0,
      "allele_count_reference_population": 1,
      "alphamissense_prediction": null,
      "alphamissense_score": 0.1182,
      "alt": "A",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.5,
      "chr": "12",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": 0.25800997018814087,
      "computational_source_selected": "MetaRNN",
      "consequences": [
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 372,
          "aa_ref": "S",
          "aa_start": 318,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1931,
          "cdna_start": 1164,
          "cds_end": null,
          "cds_length": 1119,
          "cds_start": 952,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "NM_003651.5",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000228251.9",
          "protein_coding": true,
          "protein_id": "NP_003642.3",
          "strand": false,
          "transcript": "NM_003651.5",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 372,
          "aa_ref": "S",
          "aa_start": 318,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 1931,
          "cdna_start": 1164,
          "cds_end": null,
          "cds_length": 1119,
          "cds_start": 952,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000228251.9",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_003651.5",
          "protein_coding": true,
          "protein_id": "ENSP00000228251.4",
          "strand": false,
          "transcript": "ENST00000228251.9",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 303,
          "aa_ref": "S",
          "aa_start": 249,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1708,
          "cdna_start": 941,
          "cds_end": null,
          "cds_length": 912,
          "cds_start": 745,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 9,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000279550.11",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.745A>T",
          "hgvs_p": "p.Ser249Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000279550.7",
          "strand": false,
          "transcript": "ENST00000279550.11",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 437,
          "aa_ref": "S",
          "aa_start": 383,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2124,
          "cdna_start": 1357,
          "cds_end": null,
          "cds_length": 1314,
          "cds_start": 1147,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": 10,
          "exon_rank_end": null,
          "feature": "ENST00000955210.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.1147A>T",
          "hgvs_p": "p.Ser383Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625269.1",
          "strand": false,
          "transcript": "ENST00000955210.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 382,
          "aa_ref": "S",
          "aa_start": 328,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1961,
          "cdna_start": 1194,
          "cds_end": null,
          "cds_length": 1149,
          "cds_start": 982,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 11,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000955208.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.982A>T",
          "hgvs_p": "p.Ser328Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625267.1",
          "strand": false,
          "transcript": "ENST00000955208.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 378,
          "aa_ref": "S",
          "aa_start": 324,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1956,
          "cdna_start": 1189,
          "cds_end": null,
          "cds_length": 1137,
          "cds_start": 970,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000895014.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.970A>T",
          "hgvs_p": "p.Ser324Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000565073.1",
          "strand": false,
          "transcript": "ENST00000895014.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 378,
          "aa_ref": "S",
          "aa_start": 324,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1946,
          "cdna_start": 1182,
          "cds_end": null,
          "cds_length": 1137,
          "cds_start": 970,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000955211.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.970A>T",
          "hgvs_p": "p.Ser324Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625270.1",
          "strand": false,
          "transcript": "ENST00000955211.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 372,
          "aa_ref": "S",
          "aa_start": 318,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3413,
          "cdna_start": 1171,
          "cds_end": null,
          "cds_length": 1119,
          "cds_start": 952,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 9,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000895017.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000565076.1",
          "strand": false,
          "transcript": "ENST00000895017.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 372,
          "aa_ref": "S",
          "aa_start": 318,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1555,
          "cdna_start": 1171,
          "cds_end": null,
          "cds_length": 1119,
          "cds_start": 952,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000895018.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000565077.1",
          "strand": false,
          "transcript": "ENST00000895018.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 372,
          "aa_ref": "S",
          "aa_start": 318,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1987,
          "cdna_start": 1229,
          "cds_end": null,
          "cds_length": 1119,
          "cds_start": 952,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000932591.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000602650.1",
          "strand": false,
          "transcript": "ENST00000932591.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 371,
          "aa_ref": "S",
          "aa_start": 317,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1993,
          "cdna_start": 1226,
          "cds_end": null,
          "cds_length": 1116,
          "cds_start": 949,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000895012.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.949A>T",
          "hgvs_p": "p.Ser317Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000565071.1",
          "strand": false,
          "transcript": "ENST00000895012.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 370,
          "aa_ref": "S",
          "aa_start": 318,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1933,
          "cdna_start": 1170,
          "cds_end": null,
          "cds_length": 1113,
          "cds_start": 952,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000932592.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.952A>T",
          "hgvs_p": "p.Ser318Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000602651.1",
          "strand": false,
          "transcript": "ENST00000932592.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 369,
          "aa_ref": "S",
          "aa_start": 315,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1994,
          "cdna_start": 1220,
          "cds_end": null,
          "cds_length": 1110,
          "cds_start": 943,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000895010.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.943A>T",
          "hgvs_p": "p.Ser315Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000565069.1",
          "strand": false,
          "transcript": "ENST00000895010.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 369,
          "aa_ref": "S",
          "aa_start": 315,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1921,
          "cdna_start": 1155,
          "cds_end": null,
          "cds_length": 1110,
          "cds_start": 943,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000955209.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.943A>T",
          "hgvs_p": "p.Ser315Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625268.1",
          "strand": false,
          "transcript": "ENST00000955209.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 368,
          "aa_ref": "S",
          "aa_start": 314,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1926,
          "cdna_start": 1159,
          "cds_end": null,
          "cds_length": 1107,
          "cds_start": 940,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000895015.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.940A>T",
          "hgvs_p": "p.Ser314Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000565074.1",
          "strand": false,
          "transcript": "ENST00000895015.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 368,
          "aa_ref": "S",
          "aa_start": 314,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1914,
          "cdna_start": 1150,
          "cds_end": null,
          "cds_length": 1107,
          "cds_start": 940,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 11,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000955212.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.940A>T",
          "hgvs_p": "p.Ser314Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625271.1",
          "strand": false,
          "transcript": "ENST00000955212.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 362,
          "aa_ref": "S",
          "aa_start": 308,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1382,
          "cdna_start": 1139,
          "cds_end": null,
          "cds_length": 1089,
          "cds_start": 922,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000932594.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.922A>T",
          "hgvs_p": "p.Ser308Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000602653.1",
          "strand": false,
          "transcript": "ENST00000932594.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 336,
          "aa_ref": "S",
          "aa_start": 282,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1683,
          "cdna_start": 1056,
          "cds_end": null,
          "cds_length": 1011,
          "cds_start": 844,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000955215.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.844A>T",
          "hgvs_p": "p.Ser282Cys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625274.1",
          "strand": false,
          "transcript": "ENST00000955215.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "C",
          "aa_end": null,
          "aa_length": 331,
          "aa_ref": "S",
          "aa_start": 277,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1820,
          "cdna_start": 1041,
          "cds_end": null,
          "cds_length": 996,
          "cds_start": 829,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 9,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000955201.1",
          "gene_hgnc_id": 2428,
          "gene_symbol": "YBX3",
          "hgvs_c": "c.829A>T",
          "hgvs_p": "p.Ser277Cys",
          "intron_rank": null,
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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.