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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: 9-127309965-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127309965&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 127309965,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000373387.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.220-1671C>T",
          "hgvs_p": null,
          "transcript": "NM_032293.5",
          "protein_id": "NP_115669.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1013,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3042,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3552,
          "mane_select": "ENST00000373387.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.220-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000373387.9",
          "protein_id": "ENSP00000362485.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1013,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3042,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3552,
          "mane_select": "NM_032293.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.154-1671C>T",
          "hgvs_p": null,
          "transcript": "NM_001286779.2",
          "protein_id": "NP_001273708.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 991,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.154-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000435213.6",
          "protein_id": "ENSP00000396205.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 991,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.289-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000439286.5",
          "protein_id": "ENSP00000400579.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 266,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.154-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000425970.5",
          "protein_id": "ENSP00000411329.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 831,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.289-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000444677.5",
          "protein_id": "ENSP00000411160.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 138,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 418,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 667,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.289-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000446764.5",
          "protein_id": "ENSP00000416473.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 109,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 330,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "n.166-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000373386.6",
          "protein_id": "ENSP00000362484.2",
          "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": 3143,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "n.219-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000429629.6",
          "protein_id": "ENSP00000397246.1",
          "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": 694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "n.*146-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000441134.5",
          "protein_id": "ENSP00000396319.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "n.*76-1671C>T",
          "hgvs_p": null,
          "transcript": "ENST00000453030.5",
          "protein_id": "ENSP00000389679.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "feature": null
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "intron_rank": 2,
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          "gene_symbol": "GARNL3",
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          "hgvs_c": "n.96-1671C>T",
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          "transcript": "ENST00000464616.6",
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          "mane_select": null,
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        {
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          "intron_rank": 3,
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          "gene_symbol": "GARNL3",
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          "hgvs_c": "n.230-1671C>T",
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          "transcript": "ENST00000478702.5",
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          "mane_select": null,
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        {
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          "gene_symbol": "GARNL3",
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          "gene_symbol": "GARNL3",
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          "hgvs_c": "n.241-1671C>T",
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          "transcript": "ENST00000498801.5",
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        {
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          "exon_count": 27,
          "intron_rank": 2,
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          "gene_symbol": "GARNL3",
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          "hgvs_c": "n.324-1671C>T",
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          "transcript": "NR_104591.2",
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 30,
          "intron_rank": 4,
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          "gene_symbol": "GARNL3",
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          "hgvs_c": "c.409-1671C>T",
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          ],
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          "exon_count": 30,
          "intron_rank": 4,
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          "gene_symbol": "GARNL3",
          "gene_hgnc_id": 25425,
          "hgvs_c": "c.289-1671C>T",
          "hgvs_p": null,
          "transcript": "XM_005252268.3",
          "protein_id": "XP_005252325.1",
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      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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}