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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: 19-14565755-TCC-AGT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14565755&ref=TCC&alt=AGT&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "TECR",
          "hgnc_id": 4551,
          "hgvs_c": "c.856_858delTCCinsAGT",
          "hgvs_p": "p.287",
          "inheritance_mode": "AR",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "NM_001321170.1",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "AGT",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "19",
      "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": 308,
          "aa_ref": "S",
          "aa_start": 271,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1139,
          "cdna_start": 914,
          "cds_end": null,
          "cds_length": 927,
          "cds_start": 811,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_138501.6",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.811_813delTCCinsAGT",
          "hgvs_p": "p.272",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000215567.10",
          "protein_coding": true,
          "protein_id": "NP_612510.1",
          "strand": true,
          "transcript": "NM_138501.6",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 308,
          "aa_ref": "S",
          "aa_start": 271,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 1139,
          "cdna_start": 914,
          "cds_end": null,
          "cds_length": 927,
          "cds_start": 811,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000215567.10",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.811_813delTCCinsAGT",
          "hgvs_p": "p.272",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_138501.6",
          "protein_coding": true,
          "protein_id": "ENSP00000215567.4",
          "strand": true,
          "transcript": "ENST00000215567.10",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 346,
          "aa_ref": "S",
          "aa_start": 309,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1188,
          "cdna_start": 965,
          "cds_end": null,
          "cds_length": 1041,
          "cds_start": 925,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000596073.6",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.925_927delTCCinsAGT",
          "hgvs_p": "p.310",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000472697.2",
          "strand": true,
          "transcript": "ENST00000596073.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 375,
          "aa_ref": "S",
          "aa_start": 338,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1333,
          "cdna_start": 1109,
          "cds_end": null,
          "cds_length": 1128,
          "cds_start": 1012,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971295.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.1012_1014delTCCinsAGT",
          "hgvs_p": "p.339",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641354.1",
          "strand": true,
          "transcript": "ENST00000971295.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 351,
          "aa_ref": "S",
          "aa_start": 314,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1268,
          "cdna_start": 1043,
          "cds_end": null,
          "cds_length": 1056,
          "cds_start": 940,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882755.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.940_942delTCCinsAGT",
          "hgvs_p": "p.315",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552814.1",
          "strand": true,
          "transcript": "ENST00000882755.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 341,
          "aa_ref": "S",
          "aa_start": 304,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1238,
          "cdna_start": 1013,
          "cds_end": null,
          "cds_length": 1026,
          "cds_start": 910,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882754.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.910_912delTCCinsAGT",
          "hgvs_p": "p.305",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552813.1",
          "strand": true,
          "transcript": "ENST00000882754.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 340,
          "aa_ref": "S",
          "aa_start": 303,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1205,
          "cdna_start": 980,
          "cds_end": null,
          "cds_length": 1023,
          "cds_start": 907,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971296.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.907_909delTCCinsAGT",
          "hgvs_p": "p.304",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641355.1",
          "strand": true,
          "transcript": "ENST00000971296.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 323,
          "aa_ref": "S",
          "aa_start": 286,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1240,
          "cdna_start": 1015,
          "cds_end": null,
          "cds_length": 972,
          "cds_start": 856,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001321170.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.856_858delTCCinsAGT",
          "hgvs_p": "p.287",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001308099.1",
          "strand": true,
          "transcript": "NM_001321170.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 318,
          "aa_ref": "S",
          "aa_start": 281,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1164,
          "cdna_start": 940,
          "cds_end": null,
          "cds_length": 957,
          "cds_start": 841,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971293.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.841_843delTCCinsAGT",
          "hgvs_p": "p.282",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641352.1",
          "strand": true,
          "transcript": "ENST00000971293.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 307,
          "aa_ref": "S",
          "aa_start": 270,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1138,
          "cdna_start": 913,
          "cds_end": null,
          "cds_length": 924,
          "cds_start": 808,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882753.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.808_810delTCCinsAGT",
          "hgvs_p": "p.271",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552812.1",
          "strand": true,
          "transcript": "ENST00000882753.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 306,
          "aa_ref": "S",
          "aa_start": 269,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1149,
          "cdna_start": 924,
          "cds_end": null,
          "cds_length": 921,
          "cds_start": 805,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882752.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.805_807delTCCinsAGT",
          "hgvs_p": "p.270",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552811.1",
          "strand": true,
          "transcript": "ENST00000882752.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 306,
          "aa_ref": "S",
          "aa_start": 269,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1174,
          "cdna_start": 942,
          "cds_end": null,
          "cds_length": 921,
          "cds_start": 805,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000913609.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.805_807delTCCinsAGT",
          "hgvs_p": "p.270",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000583668.1",
          "strand": true,
          "transcript": "ENST00000913609.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 299,
          "aa_ref": "S",
          "aa_start": 262,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1105,
          "cdna_start": 882,
          "cds_end": null,
          "cds_length": 900,
          "cds_start": 784,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971294.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.784_786delTCCinsAGT",
          "hgvs_p": "p.263",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641353.1",
          "strand": true,
          "transcript": "ENST00000971294.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 291,
          "aa_ref": "S",
          "aa_start": 254,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1083,
          "cdna_start": 859,
          "cds_end": null,
          "cds_length": 876,
          "cds_start": 760,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882756.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.760_762delTCCinsAGT",
          "hgvs_p": "p.255",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552815.1",
          "strand": true,
          "transcript": "ENST00000882756.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 279,
          "aa_ref": "S",
          "aa_start": 242,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1045,
          "cdna_start": 823,
          "cds_end": null,
          "cds_length": 840,
          "cds_start": 724,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882757.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.724_726delTCCinsAGT",
          "hgvs_p": "p.243",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552816.1",
          "strand": true,
          "transcript": "ENST00000882757.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 275,
          "aa_ref": "S",
          "aa_start": 238,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1009,
          "cdna_start": 785,
          "cds_end": null,
          "cds_length": 828,
          "cds_start": 712,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000882758.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.712_714delTCCinsAGT",
          "hgvs_p": "p.239",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552817.1",
          "strand": true,
          "transcript": "ENST00000882758.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 274,
          "aa_ref": "S",
          "aa_start": 237,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1051,
          "cdna_start": 826,
          "cds_end": null,
          "cds_length": 825,
          "cds_start": 709,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000913612.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.709_711delTCCinsAGT",
          "hgvs_p": "p.238",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000583671.1",
          "strand": true,
          "transcript": "ENST00000913612.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 269,
          "aa_ref": "S",
          "aa_start": 232,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1042,
          "cdna_start": 809,
          "cds_end": null,
          "cds_length": 810,
          "cds_start": 694,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000913611.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.694_696delTCCinsAGT",
          "hgvs_p": "p.233",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000583670.1",
          "strand": true,
          "transcript": "ENST00000913611.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 150,
          "aa_ref": "S",
          "aa_start": 113,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 559,
          "cdna_start": 337,
          "cds_end": null,
          "cds_length": 453,
          "cds_start": 337,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000601187.1",
          "gene_hgnc_id": 4551,
          "gene_symbol": "TECR",
          "hgvs_c": "c.337_339delTCCinsAGT",
          "hgvs_p": "p.114",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
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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.