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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: 4-153204576-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153204576&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 153204576,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001375488.1",
      "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.30+16A>C",
          "hgvs_p": null,
          "transcript": "NM_015271.5",
          "protein_id": "NP_056086.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6755,
          "mane_select": "ENST00000338700.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015271.5"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.30+16A>C",
          "hgvs_p": null,
          "transcript": "ENST00000338700.10",
          "protein_id": "ENSP00000339659.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6755,
          "mane_select": "NM_015271.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000338700.10"
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.-52+16A>C",
          "hgvs_p": null,
          "transcript": "ENST00000675838.1",
          "protein_id": "ENSP00000501593.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675838.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.-49+51306A>C",
          "hgvs_p": null,
          "transcript": "ENST00000437508.7",
          "protein_id": "ENSP00000415812.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3828,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000437508.7"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.-52+16A>C",
          "hgvs_p": null,
          "transcript": "ENST00000494872.6",
          "protein_id": "ENSP00000488229.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2452,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000494872.6"
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.-49+16A>C",
          "hgvs_p": null,
          "transcript": "ENST00000674967.1",
          "protein_id": "ENSP00000501627.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674967.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.30+16A>C",
          "hgvs_p": null,
          "transcript": "NM_001375488.1",
          "protein_id": "NP_001362417.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6848,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375488.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.30+16A>C",
          "hgvs_p": null,
          "transcript": "NM_001375489.1",
          "protein_id": "NP_001362418.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375489.1"
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.-52+51964A>C",
          "hgvs_p": null,
          "transcript": "ENST00000675518.1",
          "protein_id": "ENSP00000501852.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 787,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": null,
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          "cdna_length": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675518.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.30+16A>C",
          "hgvs_p": null,
          "transcript": "NM_001438618.1",
          "protein_id": "NP_001425547.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": null,
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          "cds_length": 2328,
          "cdna_start": null,
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          "cdna_length": 6767,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.-49+16A>C",
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          "transcript": "ENST00000675063.1",
          "protein_id": "ENSP00000501562.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "TRIM2",
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        {
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          "gene_symbol": "TRIM2",
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        {
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          "gene_symbol": "TRIM2",
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          "transcript": "NM_001375490.1",
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          "gene_symbol": "TRIM2",
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          "transcript": "NM_001375491.1",
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          "gene_symbol": "TRIM2",
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          "hgvs_c": "c.-49+51306A>C",
          "hgvs_p": null,
          "transcript": "NM_001130067.2",
          "protein_id": "NP_001123539.1",
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        },
        {
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.