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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: 1-173824708-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173824708&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 173824708,
      "ref": "G",
      "alt": "C",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_018122.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
          "hgvs_p": null,
          "transcript": "NM_018122.5",
          "protein_id": "NP_060592.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 645,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1938,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3336,
          "mane_select": "ENST00000649689.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000649689.2",
          "protein_id": "ENSP00000497569.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 645,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1938,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3336,
          "mane_select": "NM_018122.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "c.-598C>G",
          "hgvs_p": null,
          "transcript": "NM_001387287.1",
          "protein_id": "NP_001374216.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2706,
          "mane_select": "ENST00000682279.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "c.-598C>G",
          "hgvs_p": null,
          "transcript": "ENST00000682279.1",
          "protein_id": "ENSP00000507473.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2706,
          "mane_select": "NM_001387287.1",
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "n.13C>G",
          "hgvs_p": null,
          "transcript": "ENST00000479159.1",
          "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": 740,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "n.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000647730.1",
          "protein_id": "ENSP00000497781.1",
          "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": 3133,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "n.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000647788.1",
          "protein_id": "ENSP00000497769.1",
          "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": 2997,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "n.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000648271.1",
          "protein_id": "ENSP00000497795.1",
          "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": 3361,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "n.176C>G",
          "hgvs_p": null,
          "transcript": "NR_170626.1",
          "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": 2808,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "n.176C>G",
          "hgvs_p": null,
          "transcript": "NR_170627.1",
          "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": 2824,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "n.176C>G",
          "hgvs_p": null,
          "transcript": "NR_170628.1",
          "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": 2389,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "n.176C>G",
          "hgvs_p": null,
          "transcript": "NR_170629.1",
          "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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          "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": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000647645.1",
          "protein_id": "ENSP00000497450.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 624,
          "cds_start": -4,
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          "cds_length": 1875,
          "cdna_start": null,
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          "cdna_length": 3209,
          "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": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
          "hgvs_p": null,
          "transcript": "NM_001365212.1",
          "protein_id": "NP_001352141.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1785,
          "cdna_start": null,
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          "cdna_length": 3183,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
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          "transcript": "ENST00000648807.1",
          "protein_id": "ENSP00000497472.1",
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        },
        {
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": 1,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000649067.1",
          "protein_id": "ENSP00000497052.1",
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          "aa_start": null,
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          "aa_length": 539,
          "cds_start": -4,
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          "cds_length": 1620,
          "cdna_start": null,
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          "cdna_length": 3820,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000648960.1",
          "protein_id": "ENSP00000497091.1",
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          "cds_start": -4,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "DARS2",
          "gene_hgnc_id": 25538,
          "hgvs_c": "c.-522G>C",
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          "transcript": "NM_001365213.2",
          "protein_id": "NP_001352142.1",
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        {
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          ],
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "c.-672C>G",
          "hgvs_p": null,
          "transcript": "NM_001127181.3",
          "protein_id": "NP_001120653.1",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "c.-789C>G",
          "hgvs_p": null,
          "transcript": "NM_001387284.1",
          "protein_id": "NP_001374213.1",
          "transcript_support_level": null,
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          "aa_length": 390,
          "cds_start": -4,
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          "cds_length": 1173,
          "cdna_start": null,
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          "cdna_length": 3035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPL",
          "gene_hgnc_id": 17879,
          "hgvs_c": "c.-790C>G",
          "hgvs_p": null,
          "transcript": "NM_001387285.1",
          "protein_id": "NP_001374214.1",
          "transcript_support_level": null,
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          "aa_length": 390,
          "cds_start": -4,
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
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      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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}