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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: 19-54154264-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54154264&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 54154264,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000221232.11",
      "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.2163+424G>A",
          "hgvs_p": null,
          "transcript": "NM_014516.4",
          "protein_id": "NP_055331.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2818,
          "mane_select": "ENST00000221232.11",
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.2163+424G>A",
          "hgvs_p": null,
          "transcript": "ENST00000221232.11",
          "protein_id": "ENSP00000221232.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2818,
          "mane_select": "NM_014516.4",
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.2163+424G>A",
          "hgvs_p": null,
          "transcript": "ENST00000358389.7",
          "protein_id": "ENSP00000351159.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4118,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "n.3121G>A",
          "hgvs_p": null,
          "transcript": "ENST00000618939.5",
          "protein_id": null,
          "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": 4537,
          "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": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*213G>A",
          "hgvs_p": null,
          "transcript": "NM_001440655.1",
          "protein_id": "NP_001427584.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3019,
          "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": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*213G>A",
          "hgvs_p": null,
          "transcript": "NM_001440656.1",
          "protein_id": "NP_001427585.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3013,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*379G>A",
          "hgvs_p": null,
          "transcript": "NM_001440657.1",
          "protein_id": "NP_001427586.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3119,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*379G>A",
          "hgvs_p": null,
          "transcript": "NM_001440658.1",
          "protein_id": "NP_001427587.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3116,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*513G>A",
          "hgvs_p": null,
          "transcript": "NM_001440663.1",
          "protein_id": "NP_001427592.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3202,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*513G>A",
          "hgvs_p": null,
          "transcript": "NM_001440664.1",
          "protein_id": "NP_001427593.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": null,
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          "cdna_length": 3199,
          "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": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*513G>A",
          "hgvs_p": null,
          "transcript": "ENST00000617930.2",
          "protein_id": "ENSP00000496602.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4349,
          "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": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*379G>A",
          "hgvs_p": null,
          "transcript": "NM_001440660.1",
          "protein_id": "NP_001427589.1",
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          "cds_start": -4,
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          "cdna_start": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*213G>A",
          "hgvs_p": null,
          "transcript": "ENST00000457463.1",
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          "aa_length": 287,
          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.*213G>A",
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          "transcript": "XM_047438871.1",
          "protein_id": "XP_047294827.1",
          "transcript_support_level": null,
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          "aa_length": 756,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
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            "3_prime_UTR_variant"
          ],
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "CNOT3",
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          "hgvs_c": "c.*759G>A",
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        {
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          ],
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          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.2166+424G>A",
          "hgvs_p": null,
          "transcript": "NM_001440653.1",
          "protein_id": "NP_001427582.1",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.2163+424G>A",
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          "transcript": "NM_001440654.1",
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
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        },
        {
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          "intron_rank": 18,
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          "gene_symbol": "CNOT3",
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          "hgvs_c": "c.2166+424G>A",
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        },
        {
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          "strand": true,
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          ],
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          "exon_count": 18,
          "intron_rank": 17,
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          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.1620+424G>A",
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          "transcript": "NM_001440659.1",
          "protein_id": "NP_001427588.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2874,
          "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,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNOT3",
          "gene_hgnc_id": 7879,
          "hgvs_c": "c.117+424G>A",
          "hgvs_p": null,
          "transcript": "ENST00000471126.1",
          "protein_id": "ENSP00000420064.1",
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          "aa_length": 88,
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