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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: 9-14770660-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14770660&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 14770660,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_144966.7",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "NM_001379081.2",
          "protein_id": "NP_001366010.1",
          "transcript_support_level": null,
          "aa_start": 1668,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5004,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000380880.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001379081.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "ENST00000380880.4",
          "protein_id": "ENSP00000370262.3",
          "transcript_support_level": 5,
          "aa_start": 1668,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5004,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001379081.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380880.4"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.612C>T",
          "hgvs_p": "p.Ile204Ile",
          "transcript": "ENST00000380894.5",
          "protein_id": "ENSP00000370278.1",
          "transcript_support_level": 1,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 612,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380894.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "n.3982-20384C>T",
          "hgvs_p": null,
          "transcript": "ENST00000380875.7",
          "protein_id": "ENSP00000370257.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000380875.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "NM_144966.7",
          "protein_id": "NP_659403.4",
          "transcript_support_level": null,
          "aa_start": 1668,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5004,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_144966.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "ENST00000895028.1",
          "protein_id": "ENSP00000565087.1",
          "transcript_support_level": null,
          "aa_start": 1668,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5004,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895028.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.612C>T",
          "hgvs_p": "p.Ile204Ile",
          "transcript": "NM_001177704.3",
          "protein_id": "NP_001171175.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 612,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001177704.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.612C>T",
          "hgvs_p": "p.Ile204Ile",
          "transcript": "NM_001370061.2",
          "protein_id": "NP_001356990.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 612,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370061.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.612C>T",
          "hgvs_p": "p.Ile204Ile",
          "transcript": "NM_001370058.2",
          "protein_id": "NP_001356987.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 612,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370058.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_017014316.3",
          "protein_id": "XP_016869805.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5031,
          "cds_end": null,
          "cds_length": 6567,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017014316.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_017014319.3",
          "protein_id": "XP_016869808.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5031,
          "cds_end": null,
          "cds_length": 6567,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017014319.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_017014320.3",
          "protein_id": "XP_016869809.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5031,
          "cds_end": null,
          "cds_length": 6567,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017014320.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_017014321.3",
          "protein_id": "XP_016869810.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5031,
          "cds_end": null,
          "cds_length": 6567,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017014321.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_017014322.2",
          "protein_id": "XP_016869811.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5031,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_017014322.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_047422844.1",
          "protein_id": "XP_047278800.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5031,
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          "cds_length": 6567,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047422844.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_047422845.1",
          "protein_id": "XP_047278801.1",
          "transcript_support_level": null,
          "aa_start": 1677,
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          "cds_start": 5031,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047422845.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "XM_047422846.1",
          "protein_id": "XP_047278802.1",
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        {
          "aa_ref": "I",
          "aa_alt": "I",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 26,
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          "exon_count": 37,
          "intron_rank": null,
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          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "XM_047422847.1",
          "protein_id": "XP_047278803.1",
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        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
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          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5004C>T",
          "hgvs_p": "p.Ile1668Ile",
          "transcript": "XM_047422848.1",
          "protein_id": "XP_047278804.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047422848.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Ile1677Ile",
          "transcript": "XM_017014324.3",
          "protein_id": "XP_016869813.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5031,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}