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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: 3-51986395-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51986395&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 51986395,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000636358.2",
      "consequences": [
        {
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "NM_000666.3",
          "protein_id": "NP_000657.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 408,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1227,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1422,
          "mane_select": "ENST00000636358.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000636358.2",
          "protein_id": "ENSP00000490149.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 408,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1227,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1422,
          "mane_select": "NM_000666.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "c.740-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000463937.1",
          "protein_id": "ENSP00000420487.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1705,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000404366.7",
          "protein_id": "ENSP00000384296.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 408,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1227,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1473,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "n.*518C>G",
          "hgvs_p": null,
          "transcript": "ENST00000636718.1",
          "protein_id": "ENSP00000490429.1",
          "transcript_support_level": 5,
          "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": 2499,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "n.*654C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637563.1",
          "protein_id": "ENSP00000490319.1",
          "transcript_support_level": 5,
          "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": 2622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "n.*654C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637778.1",
          "protein_id": "ENSP00000490052.1",
          "transcript_support_level": 5,
          "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": 3628,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "n.*518C>G",
          "hgvs_p": null,
          "transcript": "ENST00000636718.1",
          "protein_id": "ENSP00000490429.1",
          "transcript_support_level": 5,
          "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": 2499,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "n.*654C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637563.1",
          "protein_id": "ENSP00000490319.1",
          "transcript_support_level": 5,
          "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": 2622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "n.*654C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637778.1",
          "protein_id": "ENSP00000490052.1",
          "transcript_support_level": 5,
          "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": 3628,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "c.1004-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637978.1",
          "protein_id": "ENSP00000490744.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 584,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "c.707-20C>G",
          "hgvs_p": null,
          "transcript": "NM_001316331.2",
          "protein_id": "NP_001303260.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1836,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "NM_001198895.2",
          "protein_id": "NP_001185824.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 408,
          "cds_start": -4,
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          "cds_length": 1227,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1417,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.332-20C>G",
          "hgvs_p": null,
          "transcript": "NM_001198898.2",
          "protein_id": "NP_001185827.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.332-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000476351.5",
          "protein_id": "ENSP00000417056.1",
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          "cds_start": -4,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.332-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000635797.1",
          "protein_id": "ENSP00000490007.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": -4,
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          "cds_length": 1122,
          "cdna_start": null,
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          "cdna_length": 1294,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "NM_001198897.2",
          "protein_id": "NP_001185826.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 343,
          "cds_start": -4,
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          "cds_length": 1032,
          "cdna_start": null,
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          "cdna_length": 1227,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000476854.5",
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.311-210C>G",
          "hgvs_p": null,
          "transcript": "NM_001198896.2",
          "protein_id": "NP_001185825.1",
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          "cdna_length": 1206,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ACY1",
          "gene_hgnc_id": 177,
          "hgvs_c": "c.311-210C>G",
          "hgvs_p": null,
          "transcript": "ENST00000494103.5",
          "protein_id": "ENSP00000417618.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1298,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ABHD14A-ACY1",
          "gene_hgnc_id": 38856,
          "hgvs_c": "c.437-20C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637222.1",
          "protein_id": "ENSP00000490353.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
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}