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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: 4-77055221-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=77055221&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 77055221,
      "ref": "C",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "NM_001348140.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_006835.3",
          "protein_id": "NP_006826.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000237654.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006835.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000237654.9",
          "protein_id": "ENSP00000237654.4",
          "transcript_support_level": 1,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006835.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000237654.9"
        },
        {
          "aa_ref": "W",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.540G>A",
          "hgvs_p": "p.Trp180*",
          "transcript": "NM_001348140.2",
          "protein_id": "NP_001335069.1",
          "transcript_support_level": null,
          "aa_start": 180,
          "aa_end": null,
          "aa_length": 209,
          "cds_start": 540,
          "cds_end": null,
          "cds_length": 630,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348140.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_001348132.2",
          "protein_id": "NP_001335061.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348132.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_001348133.2",
          "protein_id": "NP_001335062.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348133.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000718433.1",
          "protein_id": "ENSP00000520818.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000718433.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000887844.1",
          "protein_id": "ENSP00000557903.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000887844.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000912007.1",
          "protein_id": "ENSP00000582066.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912007.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000950255.1",
          "protein_id": "ENSP00000620314.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950255.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000950256.1",
          "protein_id": "ENSP00000620315.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
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          "cds_length": 1134,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950256.1"
        },
        {
          "aa_ref": "V",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000950260.1",
          "protein_id": "ENSP00000620319.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 619,
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          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950260.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CCNI",
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          "transcript": "ENST00000950261.1",
          "protein_id": "ENSP00000620320.1",
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          "cds_start": 619,
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CCNI",
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          "hgvs_c": "c.613G>A",
          "hgvs_p": "p.Val205Ile",
          "transcript": "ENST00000950257.1",
          "protein_id": "ENSP00000620316.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.601G>A",
          "hgvs_p": "p.Val201Ile",
          "transcript": "ENST00000887841.1",
          "protein_id": "ENSP00000557900.1",
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          "aa_end": null,
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          "cdna_start": null,
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        {
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          "cds_start": 577,
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          "mane_select": null,
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        {
          "aa_ref": "V",
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          "strand": false,
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          ],
          "exon_rank": 5,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
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          "hgvs_p": "p.Val193Ile",
          "transcript": "ENST00000507788.3",
          "protein_id": "ENSP00000421594.2",
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          "aa_end": null,
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          "cds_start": 577,
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        {
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          "gene_symbol": "CCNI",
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          "hgvs_c": "c.619G>A",
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          "transcript": "ENST00000912009.1",
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          "gene_symbol": "CCNI",
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        {
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCNI",
          "gene_hgnc_id": 1595,
          "hgvs_c": "c.496G>A",
          "hgvs_p": "p.Val166Ile",
          "transcript": "NM_001348135.2",
          "protein_id": "NP_001335064.1",
          "transcript_support_level": null,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348135.2"
        },
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