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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: 3-24373085-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24373085&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 24373085,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_000461.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-260-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001354712.2",
          "protein_id": "NP_001341641.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000646209.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354712.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-260-35714T>A",
          "hgvs_p": null,
          "transcript": "ENST00000646209.2",
          "protein_id": "ENSP00000496686.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001354712.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000646209.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-260-35714T>A",
          "hgvs_p": null,
          "transcript": "ENST00000356447.9",
          "protein_id": "ENSP00000348827.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000356447.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-251-35714T>A",
          "hgvs_p": null,
          "transcript": "ENST00000447875.5",
          "protein_id": "ENSP00000388467.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 121,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 366,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000447875.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-171-24471T>A",
          "hgvs_p": null,
          "transcript": "ENST00000453729.6",
          "protein_id": "ENSP00000414910.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 120,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 364,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000453729.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-114-35714T>A",
          "hgvs_p": null,
          "transcript": "ENST00000431815.5",
          "protein_id": "ENSP00000395362.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 113,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 343,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000431815.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-114-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_000461.5",
          "protein_id": "NP_000452.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000461.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-260-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001128176.3",
          "protein_id": "NP_001121648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128176.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-251-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001128177.2",
          "protein_id": "NP_001121649.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128177.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-349-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001252634.2",
          "protein_id": "NP_001239563.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001252634.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 1,
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-114-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001354708.2",
          "protein_id": "NP_001341637.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
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          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001354708.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-171-24471T>A",
          "hgvs_p": null,
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          "protein_id": "NP_001341638.1",
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
          "aa_ref": null,
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          ],
          "exon_rank": null,
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-260-35714T>A",
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          "transcript": "NM_001354710.2",
          "protein_id": "NP_001341639.1",
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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": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-114-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001354711.2",
          "protein_id": "NP_001341640.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        },
        {
          "aa_ref": null,
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          "gene_symbol": "THRB",
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          "hgvs_c": "c.-114-35714T>A",
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          "feature": "NM_001354713.2"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-114-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001374822.1",
          "protein_id": "NP_001361751.1",
          "transcript_support_level": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-114-35714T>A",
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          "transcript": "NM_001374823.1",
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        {
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          "gene_symbol": "THRB",
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          "hgvs_c": "c.-114-35714T>A",
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        },
        {
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          ],
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          "gene_symbol": "THRB",
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          "hgvs_c": "c.-205-35714T>A",
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          "biotype": "protein_coding",
          "feature": "NM_001374825.1"
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.-251-35714T>A",
          "hgvs_p": null,
          "transcript": "NM_001374826.1",
          "protein_id": "NP_001361755.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001374826.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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