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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: 11-47259102-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47259102&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47259102,
      "ref": "G",
      "alt": "C",
      "effect": "5_prime_UTR_variant",
      "transcript": "ENST00000467728.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000467728.5",
          "protein_id": "ENSP00000420656.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000467728.5"
        },
        {
          "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": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-37-78G>C",
          "hgvs_p": null,
          "transcript": "NM_005693.4",
          "protein_id": "NP_005684.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000441012.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005693.4"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-37-78G>C",
          "hgvs_p": null,
          "transcript": "ENST00000441012.7",
          "protein_id": "ENSP00000387946.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005693.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000441012.7"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.62-689G>C",
          "hgvs_p": null,
          "transcript": "ENST00000616973.4",
          "protein_id": "ENSP00000477707.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000616973.4"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-92-689G>C",
          "hgvs_p": null,
          "transcript": "ENST00000395397.7",
          "protein_id": "ENSP00000378793.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395397.7"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-37-78G>C",
          "hgvs_p": null,
          "transcript": "ENST00000405853.7",
          "protein_id": "ENSP00000384745.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405853.7"
        },
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "n.283-689G>C",
          "hgvs_p": null,
          "transcript": "ENST00000527464.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000527464.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896739.1",
          "protein_id": "ENSP00000566798.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896739.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896741.1",
          "protein_id": "ENSP00000566800.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896741.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000965458.1",
          "protein_id": "ENSP00000635517.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965458.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000932406.1",
          "protein_id": "ENSP00000602465.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932406.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000965455.1",
          "protein_id": "ENSP00000635514.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 298,
          "cds_start": null,
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          "cds_length": 897,
          "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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          "protein_coding": true,
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          "consequences": [
            "splice_region_variant"
          ],
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000436029.5",
          "protein_id": "ENSP00000403696.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 211,
          "cds_start": null,
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          "cds_length": 636,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "XM_047426195.1",
          "protein_id": "XP_047282151.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
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        },
        {
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          ],
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "NR1H3",
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          "hgvs_c": "c.-115G>C",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "NR1H3",
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          "hgvs_c": "c.-115G>C",
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          "transcript": "ENST00000896741.1",
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        {
          "aa_ref": null,
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          ],
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "NR1H3",
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          "hgvs_c": "c.-115G>C",
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        {
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          ],
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR1H3",
          "gene_hgnc_id": 7966,
          "hgvs_c": "c.-115G>C",
          "hgvs_p": null,
          "transcript": "ENST00000436029.5",
          "protein_id": "ENSP00000403696.1",
          "transcript_support_level": 5,
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          "aa_length": 211,
          "cds_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",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
            "5_prime_UTR_variant"
          ],
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}