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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: 17-8227905-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8227905&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 8227905,
      "ref": "C",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000651323.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.*275G>T",
          "hgvs_p": null,
          "transcript": "NM_025099.6",
          "protein_id": "NP_079375.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7039,
          "mane_select": "ENST00000651323.1",
          "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": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.*275G>T",
          "hgvs_p": null,
          "transcript": "ENST00000651323.1",
          "protein_id": "ENSP00000498499.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7039,
          "mane_select": "NM_025099.6",
          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*663G>T",
          "hgvs_p": null,
          "transcript": "ENST00000449476.7",
          "protein_id": "ENSP00000396018.2",
          "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": 4795,
          "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": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2636G>T",
          "hgvs_p": null,
          "transcript": "ENST00000643543.1",
          "protein_id": "ENSP00000494323.1",
          "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": 4859,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.3861G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699850.1",
          "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": 4876,
          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.4815G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699851.1",
          "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": 5824,
          "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": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2442G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699852.1",
          "protein_id": "ENSP00000514648.1",
          "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": 5321,
          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*514G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699853.1",
          "protein_id": "ENSP00000514649.1",
          "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": 4791,
          "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": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.4488G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699854.1",
          "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": 4562,
          "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": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.5052G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699855.1",
          "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": 5124,
          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*880G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699856.1",
          "protein_id": "ENSP00000514650.1",
          "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": 3905,
          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.4508G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699857.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
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          "cdna_length": 4570,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*3213G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699858.1",
          "protein_id": "ENSP00000514651.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4496,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.3779G>T",
          "hgvs_p": null,
          "transcript": "NR_046431.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6869,
          "mane_select": null,
          "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": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.*275G>T",
          "hgvs_p": null,
          "transcript": "NM_001411067.1",
          "protein_id": "NP_001397996.1",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.*275G>T",
          "hgvs_p": null,
          "transcript": "ENST00000581729.2",
          "protein_id": "ENSP00000462720.2",
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": 1140,
          "cds_start": -4,
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          "cds_length": 3423,
          "cdna_start": null,
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          "cdna_length": 3779,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.*275G>T",
          "hgvs_p": null,
          "transcript": "ENST00000580299.2",
          "protein_id": "ENSP00000462607.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1129,
          "cds_start": -4,
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          "cds_length": 3390,
          "cdna_start": null,
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          "cdna_length": 3766,
          "mane_select": null,
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          "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": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.*275G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699849.1",
          "protein_id": "ENSP00000514647.1",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
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          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*663G>T",
          "hgvs_p": null,
          "transcript": "ENST00000449476.7",
          "protein_id": "ENSP00000396018.2",
          "transcript_support_level": 2,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
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          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2636G>T",
          "hgvs_p": null,
          "transcript": "ENST00000643543.1",
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          "cdna_start": null,
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          "cdna_length": 4859,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2442G>T",
          "hgvs_p": null,
          "transcript": "ENST00000699852.1",
          "protein_id": "ENSP00000514648.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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}