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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: 1-109628106-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109628106&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 109628106,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000528667.7",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1104G>C",
          "hgvs_p": "p.Ser368Ser",
          "transcript": "NM_001368809.2",
          "protein_id": "NP_001355738.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 825,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 2478,
          "cdna_start": 1808,
          "cdna_end": null,
          "cdna_length": 4081,
          "mane_select": "ENST00000528667.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1104G>C",
          "hgvs_p": "p.Ser368Ser",
          "transcript": "ENST00000528667.7",
          "protein_id": "ENSP00000436541.2",
          "transcript_support_level": 1,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 825,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 2478,
          "cdna_start": 1808,
          "cdna_end": null,
          "cdna_length": 4081,
          "mane_select": "NM_001368809.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1023G>C",
          "hgvs_p": "p.Ser341Ser",
          "transcript": "ENST00000342115.8",
          "protein_id": "ENSP00000345498.4",
          "transcript_support_level": 1,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 798,
          "cds_start": 1023,
          "cds_end": null,
          "cds_length": 2397,
          "cdna_start": 1455,
          "cdna_end": null,
          "cdna_length": 3728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "n.1167G>C",
          "hgvs_p": null,
          "transcript": "ENST00000526301.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3065,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1104G>C",
          "hgvs_p": "p.Ser368Ser",
          "transcript": "ENST00000369840.7",
          "protein_id": "ENSP00000358855.3",
          "transcript_support_level": 5,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": 1177,
          "cdna_end": null,
          "cdna_length": 3130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1104G>C",
          "hgvs_p": "p.Ser368Ser",
          "transcript": "NM_004037.9",
          "protein_id": "NP_004028.4",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 825,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 2478,
          "cdna_start": 1138,
          "cdna_end": null,
          "cdna_length": 3411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1104G>C",
          "hgvs_p": "p.Ser368Ser",
          "transcript": "ENST00000256578.8",
          "protein_id": "ENSP00000256578.4",
          "transcript_support_level": 5,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 825,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 2478,
          "cdna_start": 1626,
          "cdna_end": null,
          "cdna_length": 3899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1041G>C",
          "hgvs_p": "p.Ser347Ser",
          "transcript": "NM_001308170.1",
          "protein_id": "NP_001295099.1",
          "transcript_support_level": null,
          "aa_start": 347,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": 1041,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": 1235,
          "cdna_end": null,
          "cdna_length": 3512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1023G>C",
          "hgvs_p": "p.Ser341Ser",
          "transcript": "NM_139156.4",
          "protein_id": "NP_631895.1",
          "transcript_support_level": null,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 798,
          "cds_start": 1023,
          "cds_end": null,
          "cds_length": 2397,
          "cdna_start": 1455,
          "cdna_end": null,
          "cdna_length": 3728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1023G>C",
          "hgvs_p": "p.Ser341Ser",
          "transcript": "ENST00000531734.6",
          "protein_id": "ENSP00000433739.2",
          "transcript_support_level": 4,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 798,
          "cds_start": 1023,
          "cds_end": null,
          "cds_length": 2397,
          "cdna_start": 1284,
          "cdna_end": null,
          "cdna_length": 2658,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.1104G>C",
          "hgvs_p": "p.Ser368Ser",
          "transcript": "ENST00000358729.9",
          "protein_id": "ENSP00000351573.5",
          "transcript_support_level": 2,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 2367,
          "cdna_start": 1104,
          "cdna_end": null,
          "cdna_length": 2783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.912G>C",
          "hgvs_p": "p.Ser304Ser",
          "transcript": "NM_001257361.2",
          "protein_id": "NP_001244290.1",
          "transcript_support_level": null,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": 1074,
          "cdna_end": null,
          "cdna_length": 3347,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.912G>C",
          "hgvs_p": "p.Ser304Ser",
          "transcript": "ENST00000528454.5",
          "protein_id": "ENSP00000437164.1",
          "transcript_support_level": 2,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": 1289,
          "cdna_end": null,
          "cdna_length": 2728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.912G>C",
          "hgvs_p": "p.Ser304Ser",
          "transcript": "ENST00000531203.6",
          "protein_id": "ENSP00000431975.2",
          "transcript_support_level": 4,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": 1226,
          "cdna_end": null,
          "cdna_length": 2600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.786G>C",
          "hgvs_p": "p.Ser262Ser",
          "transcript": "ENST00000476688.3",
          "protein_id": "ENSP00000437025.2",
          "transcript_support_level": 3,
          "aa_start": 262,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 786,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 786,
          "cdna_end": null,
          "cdna_length": 3052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "c.504G>C",
          "hgvs_p": "p.Ser168Ser",
          "transcript": "ENST00000667949.2",
          "protein_id": "ENSP00000499465.2",
          "transcript_support_level": null,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 504,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": 1324,
          "cdna_end": null,
          "cdna_length": 3590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "n.1723G>C",
          "hgvs_p": null,
          "transcript": "ENST00000474459.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "n.1827G>C",
          "hgvs_p": null,
          "transcript": "ENST00000486282.7",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "n.1438G>C",
          "hgvs_p": null,
          "transcript": "ENST00000524975.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "n.1620G>C",
          "hgvs_p": null,
          "transcript": "ENST00000525415.2",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3878,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AMPD2",
          "gene_hgnc_id": 469,
          "hgvs_c": "n.959G>C",
          "hgvs_p": null,
          "transcript": "ENST00000527846.7",
          "protein_id": null,
          "transcript_support_level": 4,
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      "computational_score_selected": 0.04699999839067459,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
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      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.75,
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.14,
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000528667.7",
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          "hgvs_p": "p.Ser368Ser"
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}