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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: 19-5022593-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5022593&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 5022593,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001411148.1",
      "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "NM_015015.3",
          "protein_id": "NP_055830.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1096,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3291,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000159111.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015015.3"
        },
        {
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000159111.9",
          "protein_id": "ENSP00000159111.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1096,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3291,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_015015.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000159111.9"
        },
        {
          "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": 23,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000536461.6",
          "protein_id": "ENSP00000440495.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1130,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3393,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536461.6"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000381759.8",
          "protein_id": "ENSP00000371178.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000381759.8"
        },
        {
          "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": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "NM_001411148.1",
          "protein_id": "NP_001398077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1130,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3393,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001411148.1"
        },
        {
          "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": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000611640.4",
          "protein_id": "ENSP00000480642.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1130,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3393,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000611640.4"
        },
        {
          "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": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000938256.1",
          "protein_id": "ENSP00000608315.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1127,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938256.1"
        },
        {
          "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": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000879848.1",
          "protein_id": "ENSP00000549907.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1110,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3333,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879848.1"
        },
        {
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000938254.1",
          "protein_id": "ENSP00000608313.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938254.1"
        },
        {
          "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": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000879850.1",
          "protein_id": "ENSP00000549909.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1101,
          "cds_start": null,
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          "cds_length": 3306,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 2,
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          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000938252.1",
          "protein_id": "ENSP00000608311.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1099,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "KDM4B",
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          "cdna_start": null,
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        {
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        {
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          "gene_symbol": "KDM4B",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "KDM4B",
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          "gene_symbol": "KDM4B",
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          "transcript": "ENST00000938253.1",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "KDM4B",
          "gene_hgnc_id": 29136,
          "hgvs_c": "c.-26+6254T>A",
          "hgvs_p": null,
          "transcript": "ENST00000959317.1",
          "protein_id": "ENSP00000629376.1",
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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.