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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: 1-35557258-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35557258&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 35557258,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_variant",
      "transcript": "ENST00000325722.8",
      "consequences": [
        {
          "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": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "c.-80G>A",
          "hgvs_p": null,
          "transcript": "NM_024874.5",
          "protein_id": "NP_079150.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4777,
          "mane_select": "ENST00000325722.8",
          "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": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "c.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000325722.8",
          "protein_id": "ENSP00000318406.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4777,
          "mane_select": "NM_024874.5",
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000461312.6",
          "protein_id": "ENSP00000513058.1",
          "transcript_support_level": 5,
          "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": 4173,
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.131G>A",
          "hgvs_p": null,
          "transcript": "ENST00000473465.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 469,
          "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": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.148G>A",
          "hgvs_p": null,
          "transcript": "ENST00000478463.6",
          "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": 1489,
          "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": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697000.1",
          "protein_id": "ENSP00000513030.1",
          "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": 3464,
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697003.1",
          "protein_id": "ENSP00000513033.1",
          "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": 3357,
          "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": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697005.1",
          "protein_id": "ENSP00000513035.1",
          "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": 3805,
          "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": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697006.1",
          "protein_id": "ENSP00000513036.1",
          "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": 4250,
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697007.1",
          "protein_id": "ENSP00000513037.1",
          "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": 3313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "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": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697008.1",
          "protein_id": "ENSP00000513038.1",
          "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": 3371,
          "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": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697014.1",
          "protein_id": "ENSP00000513044.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_length": 3996,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
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          "transcript": "ENST00000697015.1",
          "protein_id": "ENSP00000513045.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697016.1",
          "protein_id": "ENSP00000513046.1",
          "transcript_support_level": null,
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          "cdna_length": 3085,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
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          "transcript": "ENST00000697017.1",
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        {
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          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697018.1",
          "protein_id": "ENSP00000513048.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 3844,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697019.1",
          "protein_id": "ENSP00000513049.1",
          "transcript_support_level": null,
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          "cdna_length": 4097,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
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          "protein_id": "ENSP00000513050.1",
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        },
        {
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          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697021.1",
          "protein_id": "ENSP00000513051.1",
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          "feature": null
        },
        {
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697022.1",
          "protein_id": "ENSP00000513052.1",
          "transcript_support_level": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2822,
          "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": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319L",
          "gene_hgnc_id": 30071,
          "hgvs_c": "n.-80G>A",
          "hgvs_p": null,
          "transcript": "ENST00000697023.1",
          "protein_id": "ENSP00000513053.1",
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      "clinvar_classification": "",
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}