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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: 16-2228516-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2228516&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 2228516,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_004424.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "NM_004424.5",
          "protein_id": "NP_004415.4",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 784,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2355,
          "cdna_start": 325,
          "cdna_end": null,
          "cdna_length": 2548,
          "mane_select": "ENST00000301727.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004424.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000301727.9",
          "protein_id": "ENSP00000301727.4",
          "transcript_support_level": 1,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 784,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2355,
          "cdna_start": 325,
          "cdna_end": null,
          "cdna_length": 2548,
          "mane_select": "NM_004424.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000301727.9"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000564139.5",
          "protein_id": "ENSP00000457672.1",
          "transcript_support_level": 1,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": 322,
          "cdna_end": null,
          "cdna_length": 2493,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000564139.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000565090.5",
          "protein_id": "ENSP00000456760.1",
          "transcript_support_level": 1,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": 336,
          "cdna_end": null,
          "cdna_length": 2028,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000565090.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.382G>C",
          "hgvs_p": "p.Ala128Pro",
          "transcript": "ENST00000956543.1",
          "protein_id": "ENSP00000626602.1",
          "transcript_support_level": null,
          "aa_start": 128,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 382,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": 435,
          "cdna_end": null,
          "cdna_length": 2675,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956543.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862876.1",
          "protein_id": "ENSP00000532935.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2367,
          "cdna_start": 463,
          "cdna_end": null,
          "cdna_length": 2698,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862876.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862882.1",
          "protein_id": "ENSP00000532941.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 787,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": 325,
          "cdna_end": null,
          "cdna_length": 2554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862882.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862875.1",
          "protein_id": "ENSP00000532934.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 783,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2352,
          "cdna_start": 476,
          "cdna_end": null,
          "cdna_length": 2697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862875.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000956546.1",
          "protein_id": "ENSP00000626605.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 781,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2346,
          "cdna_start": 315,
          "cdna_end": null,
          "cdna_length": 2528,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956546.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862879.1",
          "protein_id": "ENSP00000532938.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 348,
          "cdna_end": null,
          "cdna_length": 2559,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862879.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000956544.1",
          "protein_id": "ENSP00000626603.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 316,
          "cdna_end": null,
          "cdna_length": 2520,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956544.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000927664.1",
          "protein_id": "ENSP00000597723.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2334,
          "cdna_start": 325,
          "cdna_end": null,
          "cdna_length": 2525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927664.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862877.1",
          "protein_id": "ENSP00000532936.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 774,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2325,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 2549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862877.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862880.1",
          "protein_id": "ENSP00000532939.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 774,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2325,
          "cdna_start": 336,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000862880.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862881.1",
          "protein_id": "ENSP00000532940.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": 325,
          "cdna_end": null,
          "cdna_length": 2514,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862881.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000956545.1",
          "protein_id": "ENSP00000626604.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": 315,
          "cdna_end": null,
          "cdna_length": 2504,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956545.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.382G>C",
          "hgvs_p": "p.Ala128Pro",
          "transcript": "ENST00000956547.1",
          "protein_id": "ENSP00000626606.1",
          "transcript_support_level": null,
          "aa_start": 128,
          "aa_end": null,
          "aa_length": 746,
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          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 393,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000956547.1"
        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
          "strand": true,
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            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000927663.1",
          "protein_id": "ENSP00000597722.1",
          "transcript_support_level": null,
          "aa_start": 101,
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          "aa_length": 714,
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          "cdna_start": 383,
          "cdna_end": null,
          "cdna_length": 2397,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000927663.1"
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000862878.1",
          "protein_id": "ENSP00000532937.1",
          "transcript_support_level": null,
          "aa_start": 101,
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          "cds_start": 302,
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          "cds_length": 2142,
          "cdna_start": 353,
          "cdna_end": null,
          "cdna_length": 2363,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862878.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "E4F1",
          "gene_hgnc_id": 3121,
          "hgvs_c": "c.302G>C",
          "hgvs_p": "p.Gly101Ala",
          "transcript": "ENST00000927665.1",
          "protein_id": "ENSP00000597724.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 302,
          "cds_end": null,
          "cds_length": 2049,
          "cdna_start": 315,
          "cdna_end": null,
          "cdna_length": 2228,
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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.