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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: 17-78107603-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78107603&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 78107603,
      "ref": "G",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000590602.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "n.2987C>G",
          "hgvs_p": null,
          "transcript": "ENST00000589217.1",
          "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": 3192,
          "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": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
          "hgvs_p": null,
          "transcript": "NM_001142640.2",
          "protein_id": "NP_001136112.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1936,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5811,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10391,
          "mane_select": "ENST00000696270.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
          "hgvs_p": null,
          "transcript": "ENST00000696270.1",
          "protein_id": "ENSP00000512514.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1936,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5811,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10391,
          "mane_select": "NM_001142640.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "c.*5545C>G",
          "hgvs_p": null,
          "transcript": "NM_001127198.5",
          "protein_id": "NP_001120670.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 805,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2418,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8387,
          "mane_select": "ENST00000590602.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "c.*5545C>G",
          "hgvs_p": null,
          "transcript": "ENST00000590602.6",
          "protein_id": "ENSP00000465261.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 805,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2418,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8387,
          "mane_select": "NM_001127198.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "n.6292C>G",
          "hgvs_p": null,
          "transcript": "NR_168288.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 6498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "n.6971C>G",
          "hgvs_p": null,
          "transcript": "NR_168289.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 7177,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "n.6874C>G",
          "hgvs_p": null,
          "transcript": "NR_168290.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 7080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMC6",
          "gene_hgnc_id": 18021,
          "hgvs_c": "n.6245C>G",
          "hgvs_p": null,
          "transcript": "NR_168291.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 6451,
          "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": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
          "hgvs_p": null,
          "transcript": "NM_001395509.1",
          "protein_id": "NP_001382438.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1905,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5718,
          "cdna_start": null,
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          "cdna_length": 10298,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
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          "transcript": "NM_001395510.1",
          "protein_id": "NP_001382439.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1897,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5694,
          "cdna_start": null,
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          "cdna_length": 10274,
          "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": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
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          "transcript": "NM_001395511.1",
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        },
        {
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          "consequences": [
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          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
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          "hgvs_c": "c.*2758G>C",
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          "protein_id": "NP_001382437.1",
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          "mane_select": null,
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        {
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          ],
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
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          "transcript": "NM_018996.3",
          "protein_id": "NP_061869.2",
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          "aa_length": 1690,
          "cds_start": -4,
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          "cdna_length": 9663,
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        },
        {
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            "3_prime_UTR_variant"
          ],
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          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
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        {
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          ],
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
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          "transcript": "XM_047436485.1",
          "protein_id": "XP_047292441.1",
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        },
        {
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          "exon_rank": 22,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
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          "hgvs_c": "c.*2758G>C",
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          "transcript": "XM_047436486.1",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
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        },
        {
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          ],
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "TNRC6C",
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          "hgvs_c": "c.*2758G>C",
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          "transcript": "XM_047436488.1",
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6C",
          "gene_hgnc_id": 29318,
          "hgvs_c": "c.*2758G>C",
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          "transcript": "XM_006721997.5",
          "protein_id": "XP_006722060.4",
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