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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: 5-134145776-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134145776&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 134145776,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000342854.10",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.766G>C",
          "hgvs_p": "p.Gly256Arg",
          "transcript": "ENST00000518915.5",
          "protein_id": "ENSP00000430179.1",
          "transcript_support_level": 1,
          "aa_start": 256,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": 766,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": 845,
          "cdna_end": null,
          "cdna_length": 1254,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.1076-448G>C",
          "hgvs_p": null,
          "transcript": "NM_003202.5",
          "protein_id": "NP_003193.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3288,
          "mane_select": "ENST00000342854.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.1076-448G>C",
          "hgvs_p": null,
          "transcript": "ENST00000342854.10",
          "protein_id": "ENSP00000340347.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3288,
          "mane_select": "NM_003202.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.731-448G>C",
          "hgvs_p": null,
          "transcript": "ENST00000395023.5",
          "protein_id": "ENSP00000378469.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2815,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.804-425G>C",
          "hgvs_p": null,
          "transcript": "ENST00000378560.8",
          "protein_id": "ENSP00000367822.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2929,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.766G>C",
          "hgvs_p": "p.Gly256Arg",
          "transcript": "NM_001134851.4",
          "protein_id": "NP_001128323.2",
          "transcript_support_level": null,
          "aa_start": 256,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": 766,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": 857,
          "cdna_end": null,
          "cdna_length": 3291,
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "n.3133G>C",
          "hgvs_p": null,
          "transcript": "ENST00000522653.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 5340,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.*765G>C",
          "hgvs_p": null,
          "transcript": "XM_006714678.4",
          "protein_id": "XP_006714741.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4808,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.*765G>C",
          "hgvs_p": null,
          "transcript": "XM_006714679.4",
          "protein_id": "XP_006714742.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.*765G>C",
          "hgvs_p": null,
          "transcript": "XM_047417635.1",
          "protein_id": "XP_047273591.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10376,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.*765G>C",
          "hgvs_p": null,
          "transcript": "XM_006714685.5",
          "protein_id": "XP_006714748.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": -4,
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          "cds_length": 1038,
          "cdna_start": null,
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          "cdna_length": 4328,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.*765G>C",
          "hgvs_p": null,
          "transcript": "XM_006714686.5",
          "protein_id": "XP_006714749.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.1149-448G>C",
          "hgvs_p": null,
          "transcript": "ENST00000395029.5",
          "protein_id": "ENSP00000378472.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 481,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "strand": true,
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          ],
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          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.1169-448G>C",
          "hgvs_p": null,
          "transcript": "NM_001346425.2",
          "protein_id": "NP_001333354.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3381,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
            "intron_variant"
          ],
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          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.824-448G>C",
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          "transcript": "ENST00000522375.6",
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        {
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          "intron_rank": 9,
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          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.824-425G>C",
          "hgvs_p": null,
          "transcript": "NM_001346450.2",
          "protein_id": "NP_001333379.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.731-448G>C",
          "hgvs_p": null,
          "transcript": "NM_201632.5",
          "protein_id": "NP_963963.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
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          "transcript": "NM_213648.5",
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        {
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          "intron_rank": 7,
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          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.731-448G>C",
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          "transcript": "ENST00000520958.5",
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        },
        {
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          "strand": true,
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          ],
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          "intron_rank": 9,
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          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.804-425G>C",
          "hgvs_p": null,
          "transcript": "NM_201634.5",
          "protein_id": "NP_963965.1",
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          "aa_length": 268,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2904,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TCF7",
          "gene_hgnc_id": 11639,
          "hgvs_c": "c.656-448G>C",
          "hgvs_p": null,
          "transcript": "NM_001366502.2",
          "protein_id": "NP_001353431.1",
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