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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: 7-148807624-A-AG (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148807624&ref=A&alt=AG&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 148807624,
      "ref": "A",
      "alt": "AG",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000320356.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "NM_004456.5",
          "protein_id": "NP_004447.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2654,
          "mane_select": "ENST00000320356.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "ENST00000320356.7",
          "protein_id": "ENSP00000320147.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2654,
          "mane_select": "NM_004456.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "ENST00000460911.5",
          "protein_id": "ENSP00000419711.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "ENST00000350995.6",
          "protein_id": "ENSP00000223193.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2477,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.*2267dupC",
          "hgvs_p": null,
          "transcript": "ENST00000492143.5",
          "protein_id": "ENSP00000417377.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3641,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.4177dupC",
          "hgvs_p": null,
          "transcript": "ENST00000682263.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4367,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.*1339dupC",
          "hgvs_p": null,
          "transcript": "ENST00000682317.1",
          "protein_id": "ENSP00000508286.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.*1173dupC",
          "hgvs_p": null,
          "transcript": "ENST00000683292.1",
          "protein_id": "ENSP00000507503.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2909,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.3996dupC",
          "hgvs_p": null,
          "transcript": "ENST00000683293.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4189,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.*1339dupC",
          "hgvs_p": null,
          "transcript": "ENST00000683744.1",
          "protein_id": "ENSP00000506949.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2707,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.*1339dupC",
          "hgvs_p": null,
          "transcript": "ENST00000684300.1",
          "protein_id": "ENSP00000508407.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.4264dupC",
          "hgvs_p": null,
          "transcript": "ENST00000684400.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.2593dupC",
          "hgvs_p": null,
          "transcript": "ENST00000684436.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "n.2655dupC",
          "hgvs_p": null,
          "transcript": "ENST00000684510.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2860,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "NM_001203247.2",
          "protein_id": "NP_001190176.1",
          "transcript_support_level": null,
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          "aa_length": 746,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "NM_001203248.2",
          "protein_id": "NP_001190177.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2612,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "ENST00000483967.5",
          "protein_id": "ENSP00000419856.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2466,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "NM_152998.3",
          "protein_id": "NP_694543.1",
          "transcript_support_level": null,
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          "aa_length": 707,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "NM_001203249.2",
          "protein_id": "NP_001190178.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": -4,
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          "cdna_start": null,
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          "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": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "ENST00000476773.5",
          "protein_id": "ENSP00000419050.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 695,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.*21dupC",
          "hgvs_p": null,
          "transcript": "ENST00000478654.5",
          "protein_id": "ENSP00000417062.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2088,
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