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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: 1-174854701-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=174854701&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 174854701,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001366446.1",
      "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": 26,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.2340+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366446.1",
          "protein_id": "NP_001353375.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8634,
          "mane_select": "ENST00000681986.1",
          "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": 26,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.2340+42741A>T",
          "hgvs_p": null,
          "transcript": "ENST00000681986.1",
          "protein_id": "ENSP00000507884.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8634,
          "mane_select": "NM_001366446.1",
          "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": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.321+42741A>T",
          "hgvs_p": null,
          "transcript": "ENST00000347255.6",
          "protein_id": "ENSP00000281844.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 378,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1744,
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.297+42741A>T",
          "hgvs_p": null,
          "transcript": "ENST00000489615.5",
          "protein_id": "ENSP00000420660.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6821,
          "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": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.261+42741A>T",
          "hgvs_p": null,
          "transcript": "ENST00000325589.9",
          "protein_id": "ENSP00000318603.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1880,
          "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": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "n.262-22691A>T",
          "hgvs_p": null,
          "transcript": "ENST00000469553.6",
          "protein_id": "ENSP00000432734.1",
          "transcript_support_level": 1,
          "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": 2103,
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.2340+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366448.1",
          "protein_id": "NP_001353377.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 985,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2958,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8436,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.2340+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_014857.5",
          "protein_id": "NP_055672.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 815,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2448,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2901,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.2340+42741A>T",
          "hgvs_p": null,
          "transcript": "ENST00000251507.8",
          "protein_id": "ENSP00000251507.4",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 815,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2448,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2899,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.2229+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366447.1",
          "protein_id": "NP_001353376.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": null,
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          "cdna_length": 2790,
          "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": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.321+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366452.1",
          "protein_id": "NP_001353381.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 378,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": null,
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          "cdna_length": 6566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 4,
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          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.318+42741A>T",
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          "transcript": "ENST00000367687.5",
          "protein_id": "ENSP00000356660.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "exon_count": 9,
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          "gene_symbol": "RABGAP1L",
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          "hgvs_c": "c.297+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001243765.2",
          "protein_id": "NP_001230694.1",
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        {
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          "intron_rank": 4,
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          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.261+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366450.1",
          "protein_id": "NP_001353379.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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        {
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        {
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          "gene_symbol": "RABGAP1L",
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          "hgvs_c": "c.297+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366456.1",
          "protein_id": "NP_001353385.1",
          "transcript_support_level": null,
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          "mane_select": null,
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          "exon_count": 13,
          "intron_rank": 4,
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          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.-542-22691A>T",
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          "transcript": "NM_001366451.1",
          "protein_id": "NP_001353380.1",
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        {
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          ],
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          "gene_symbol": "RABGAP1L",
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        },
        {
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          ],
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          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.297+42741A>T",
          "hgvs_p": null,
          "transcript": "NM_001366455.1",
          "protein_id": "NP_001353384.1",
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          "cds_start": -4,
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          "cds_length": 405,
          "cdna_start": null,
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          "cdna_length": 1282,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RABGAP1L",
          "gene_hgnc_id": 24663,
          "hgvs_c": "c.261+42741A>T",
          "hgvs_p": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}