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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: 6-31927717-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31927717&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 31927717,
      "ref": "G",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "ENST00000418949.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000244255",
          "gene_hgnc_id": null,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000456570.5",
          "protein_id": "ENSP00000410815.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1266,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3801,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000456570.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000418949.6",
          "protein_id": "ENSP00000406190.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000418949.6"
        },
        {
          "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": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "NM_000063.6",
          "protein_id": "NP_000054.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000299367.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000063.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000299367.10",
          "protein_id": "ENSP00000299367.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000063.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000299367.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000244255",
          "gene_hgnc_id": null,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000456570.5",
          "protein_id": "ENSP00000410815.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1266,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3801,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000456570.5"
        },
        {
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000418949.6",
          "protein_id": "ENSP00000406190.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000418949.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000447952.7",
          "protein_id": "ENSP00000391354.3",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 690,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2073,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000447952.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000862556.1",
          "protein_id": "ENSP00000532615.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 661,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1986,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862556.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000862557.1",
          "protein_id": "ENSP00000532616.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 661,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1986,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862557.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000442278.6",
          "protein_id": "ENSP00000395683.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 620,
          "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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          "canonical": false,
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          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000413154.5",
          "protein_id": "ENSP00000403325.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": 138,
          "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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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": 1,
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          "intron_rank": null,
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          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-151G>T",
          "hgvs_p": null,
          "transcript": "NM_001282458.2",
          "protein_id": "NP_001269387.1",
          "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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          "biotype": "protein_coding",
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        },
        {
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            "5_prime_UTR_variant"
          ],
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          "exon_count": 17,
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          "gene_symbol": "C2",
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          "hgvs_c": "c.-36G>T",
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          "protein_id": "ENSP00000391354.3",
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
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          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000862556.1",
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        {
          "aa_ref": null,
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          "consequences": [
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2",
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          "hgvs_c": "c.-36G>T",
          "hgvs_p": null,
          "transcript": "NM_001145903.3",
          "protein_id": "NP_001139375.1",
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        {
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-36G>T",
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          "transcript": "ENST00000442278.6",
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        {
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          "gene_symbol": "C2",
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        {
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          "hgvs_c": "c.-36G>T",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "C2",
          "gene_hgnc_id": 1248,
          "hgvs_c": "c.-359-238G>T",
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          "transcript": "ENST00000695637.1",
          "protein_id": "ENSP00000512074.1",
          "transcript_support_level": null,
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          "aa_length": 617,
          "cds_start": null,
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        },
        {
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}