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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: 14-100565880-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100565880&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 100565880,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000554140.3",
      "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.71+2031A>C",
          "hgvs_p": null,
          "transcript": "NM_001385089.1",
          "protein_id": "NP_001372018.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2788,
          "mane_select": "ENST00000554140.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.71+2031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000554140.3",
          "protein_id": "ENSP00000451125.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2788,
          "mane_select": "NM_001385089.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.14+2031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000355173.7",
          "protein_id": "ENSP00000347301.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2676,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.14+2031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000557378.6",
          "protein_id": "ENSP00000450722.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2750,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.671+2031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000637716.2",
          "protein_id": "ENSP00000490571.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 812,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2439,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3261,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.71+2031A>C",
          "hgvs_p": null,
          "transcript": "NM_001385085.1",
          "protein_id": "NP_001372014.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 642,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1929,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2878,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.53+2031A>C",
          "hgvs_p": null,
          "transcript": "NM_001385086.1",
          "protein_id": "NP_001372015.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.50+2031A>C",
          "hgvs_p": null,
          "transcript": "NM_001385087.1",
          "protein_id": "NP_001372016.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 635,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1908,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.14+2031A>C",
          "hgvs_p": null,
          "transcript": "NM_001385088.1",
          "protein_id": "NP_001372017.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": -4,
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          "cds_length": 1872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.14+2031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000637646.1",
          "protein_id": "ENSP00000489826.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": null,
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          "cdna_length": 2911,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 7,
          "intron_rank": 2,
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          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.53+2031A>C",
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          "transcript": "NM_001385090.1",
          "protein_id": "NP_001372019.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 606,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2698,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.50+2031A>C",
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          "transcript": "NM_001385091.1",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.53+2031A>C",
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        {
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          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.14+2031A>C",
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          "transcript": "NM_001159531.2",
          "protein_id": "NP_001153003.1",
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        {
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          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.14+2031A>C",
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          "transcript": "NM_001385083.1",
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          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
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          "transcript": "NM_001385084.1",
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        {
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BEGAIN",
          "gene_hgnc_id": 24163,
          "hgvs_c": "c.71+2031A>C",
          "hgvs_p": null,
          "transcript": "NM_001385093.1",
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