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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: X-154401914-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154401914&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 154401914,
      "ref": "C",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000369807.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "NM_001303620.2",
          "protein_id": "NP_001290549.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2610,
          "mane_select": "ENST00000369807.6",
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000369807.6",
          "protein_id": "ENSP00000358822.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2610,
          "mane_select": "NM_001303620.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1060C>G",
          "hgvs_p": null,
          "transcript": "NM_006013.5",
          "protein_id": "NP_006004.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2164,
          "mane_select": "ENST00000369817.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1060C>G",
          "hgvs_p": null,
          "transcript": "ENST00000369817.7",
          "protein_id": "ENSP00000358832.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2164,
          "mane_select": "NM_006013.5",
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000309585.9",
          "protein_id": "ENSP00000309168.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2249,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000369808.7",
          "protein_id": "ENSP00000358823.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1060C>G",
          "hgvs_p": null,
          "transcript": "ENST00000344746.8",
          "protein_id": "ENSP00000341730.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2278,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.279-1349C>G",
          "hgvs_p": null,
          "transcript": "ENST00000451365.1",
          "protein_id": "ENSP00000406125.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 108,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 327,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 713,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "n.3343G>C",
          "hgvs_p": null,
          "transcript": "XR_007068182.1",
          "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": 3499,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "NM_001009932.3",
          "protein_id": "NP_001009932.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3021,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "NM_001009933.3",
          "protein_id": "NP_001009933.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2763,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "NM_001009934.3",
          "protein_id": "NP_001009934.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2678,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "NM_006730.4",
          "protein_id": "NP_006721.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3164,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000014935.7",
          "protein_id": "ENSP00000014935.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2652,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000369809.5",
          "protein_id": "ENSP00000358824.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3008,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNASE1L1",
          "gene_hgnc_id": 2957,
          "hgvs_c": "c.*793G>C",
          "hgvs_p": null,
          "transcript": "ENST00000393638.5",
          "protein_id": "ENSP00000377255.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*891C>G",
          "hgvs_p": null,
          "transcript": "NM_001256577.2",
          "protein_id": "NP_001243506.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 216,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 651,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2320,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1060C>G",
          "hgvs_p": null,
          "transcript": "NM_001303624.2",
          "protein_id": "NP_001290553.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1060C>G",
          "hgvs_p": null,
          "transcript": "NM_001303625.1",
          "protein_id": "NP_001290554.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": -4,
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          "cds_length": 645,
          "cdna_start": null,
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          "cdna_length": 2487,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1060C>G",
          "hgvs_p": null,
          "transcript": "NM_001256580.2",
          "protein_id": "NP_001243509.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 178,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 537,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2375,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.*1256C>G",
          "hgvs_p": null,
          "transcript": "NM_001303626.1",
          "protein_id": "NP_001290555.1",
          "transcript_support_level": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "custom_annotations": null
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}