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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: 1-247424850-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=247424850&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 247424850,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_004895.5",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "NM_001243133.2",
          "protein_id": "NP_001230062.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1034,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3105,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000336119.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243133.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000336119.8",
          "protein_id": "ENSP00000337383.4",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1034,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3105,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001243133.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000336119.8"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000391828.8",
          "protein_id": "ENSP00000375704.4",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1034,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3105,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000391828.8"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000366496.7",
          "protein_id": "ENSP00000355452.3",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000366496.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000391827.3",
          "protein_id": "ENSP00000375703.3",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000391827.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000348069.7",
          "protein_id": "ENSP00000294752.4",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 920,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 2763,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348069.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1407C>G",
          "hgvs_p": "p.Leu469Leu",
          "transcript": "NM_004895.5",
          "protein_id": "NP_004886.3",
          "transcript_support_level": null,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 1036,
          "cds_start": 1407,
          "cds_end": null,
          "cds_length": 3111,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004895.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "NM_001079821.3",
          "protein_id": "NP_001073289.2",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1034,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3105,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001079821.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000697350.1",
          "protein_id": "ENSP00000513275.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1034,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3105,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697350.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000898449.1",
          "protein_id": "ENSP00000568508.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1034,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3105,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898449.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000643234.2",
          "protein_id": "ENSP00000493674.2",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000643234.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "NM_001127461.3",
          "protein_id": "NP_001120933.2",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": 1401,
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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_001127461.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "NM_001127462.3",
          "protein_id": "NP_001120934.2",
          "transcript_support_level": null,
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          "aa_length": 977,
          "cds_start": 1401,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127462.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000697408.2",
          "protein_id": "ENSP00000520480.1",
          "transcript_support_level": null,
          "aa_start": 467,
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          "cds_start": 1401,
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        },
        {
          "aa_ref": "L",
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          "strand": true,
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000898450.1",
          "protein_id": "ENSP00000568509.1",
          "transcript_support_level": null,
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          "cds_start": 1401,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000898450.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "NM_183395.3",
          "protein_id": "NP_899632.2",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "NM_183395.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000959505.1",
          "protein_id": "ENSP00000629564.1",
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        {
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          ],
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          "exon_count": 3,
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          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Leu467Leu",
          "transcript": "ENST00000474792.2",
          "protein_id": "ENSP00000493937.2",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1407C>G",
          "hgvs_p": "p.Leu469Leu",
          "transcript": "XM_017000181.2",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NLRP3",
          "gene_hgnc_id": 16400,
          "hgvs_c": "c.1407C>G",
          "hgvs_p": "p.Leu469Leu",
          "transcript": "XM_017000182.2",
          "protein_id": "XP_016855671.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}