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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: 6-135201679-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135201679&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 135201679,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000341911.10",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1991C>T",
          "hgvs_p": "p.Ser664Leu",
          "transcript": "NM_001130173.2",
          "protein_id": "NP_001123645.1",
          "transcript_support_level": null,
          "aa_start": 664,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": 1991,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": 2197,
          "cdna_end": null,
          "cdna_length": 3684,
          "mane_select": "ENST00000341911.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1991C>T",
          "hgvs_p": "p.Ser664Leu",
          "transcript": "ENST00000341911.10",
          "protein_id": "ENSP00000339992.5",
          "transcript_support_level": 1,
          "aa_start": 664,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": 1991,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": 2197,
          "cdna_end": null,
          "cdna_length": 3684,
          "mane_select": "NM_001130173.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1982C>T",
          "hgvs_p": "p.Ser661Leu",
          "transcript": "ENST00000528774.5",
          "protein_id": "ENSP00000434723.1",
          "transcript_support_level": 1,
          "aa_start": 661,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 1982,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": 1982,
          "cdna_end": null,
          "cdna_length": 2277,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1943C>T",
          "hgvs_p": "p.Ser648Leu",
          "transcript": "ENST00000534121.5",
          "protein_id": "ENSP00000432851.1",
          "transcript_support_level": 1,
          "aa_start": 648,
          "aa_end": null,
          "aa_length": 745,
          "cds_start": 1943,
          "cds_end": null,
          "cds_length": 2238,
          "cdna_start": 1943,
          "cdna_end": null,
          "cdna_length": 2238,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1628C>T",
          "hgvs_p": "p.Ser543Leu",
          "transcript": "ENST00000367814.8",
          "protein_id": "ENSP00000356788.4",
          "transcript_support_level": 1,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": 1628,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": 1814,
          "cdna_end": null,
          "cdna_length": 3302,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1619C>T",
          "hgvs_p": "p.Ser540Leu",
          "transcript": "ENST00000442647.7",
          "protein_id": "ENSP00000410825.2",
          "transcript_support_level": 1,
          "aa_start": 540,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 1619,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": 1825,
          "cdna_end": null,
          "cdna_length": 3312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1523C>T",
          "hgvs_p": "p.Ser508Leu",
          "transcript": "ENST00000533624.5",
          "protein_id": "ENSP00000436605.1",
          "transcript_support_level": 1,
          "aa_start": 508,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1523,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": 1523,
          "cdna_end": null,
          "cdna_length": 1818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "c.1373C>T",
          "hgvs_p": "p.Ser458Leu",
          "transcript": "ENST00000525369.5",
          "protein_id": "ENSP00000435938.1",
          "transcript_support_level": 1,
          "aa_start": 458,
          "aa_end": null,
          "aa_length": 555,
          "cds_start": 1373,
          "cds_end": null,
          "cds_length": 1668,
          "cdna_start": 1379,
          "cdna_end": null,
          "cdna_length": 2866,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*334C>T",
          "hgvs_p": null,
          "transcript": "ENST00000339290.9",
          "protein_id": "ENSP00000341050.5",
          "transcript_support_level": 1,
          "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": 3365,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.1628C>T",
          "hgvs_p": null,
          "transcript": "ENST00000367812.6",
          "protein_id": "ENSP00000356786.2",
          "transcript_support_level": 1,
          "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": 3565,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*334C>T",
          "hgvs_p": null,
          "transcript": "ENST00000438901.6",
          "protein_id": "ENSP00000413011.2",
          "transcript_support_level": 1,
          "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": 3481,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*697C>T",
          "hgvs_p": null,
          "transcript": "ENST00000463282.6",
          "protein_id": "ENSP00000436602.1",
          "transcript_support_level": 1,
          "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": 3422,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*1095C>T",
          "hgvs_p": null,
          "transcript": "ENST00000524588.5",
          "protein_id": "ENSP00000434675.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1630,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*141C>T",
          "hgvs_p": null,
          "transcript": "ENST00000525002.5",
          "protein_id": "ENSP00000433745.1",
          "transcript_support_level": 1,
          "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": 2182,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*697C>T",
          "hgvs_p": null,
          "transcript": "ENST00000525477.5",
          "protein_id": "ENSP00000437081.1",
          "transcript_support_level": 1,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3431,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*753C>T",
          "hgvs_p": null,
          "transcript": "ENST00000525514.5",
          "protein_id": "ENSP00000435578.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3288,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*418C>T",
          "hgvs_p": null,
          "transcript": "ENST00000525940.5",
          "protein_id": "ENSP00000432948.1",
          "transcript_support_level": 1,
          "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": 1838,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*637C>T",
          "hgvs_p": null,
          "transcript": "ENST00000526187.5",
          "protein_id": "ENSP00000434795.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 2192,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*474C>T",
          "hgvs_p": null,
          "transcript": "ENST00000526320.5",
          "protein_id": "ENSP00000434917.1",
          "transcript_support_level": 1,
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          "cdna_start": null,
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          "cdna_length": 3081,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*1060C>T",
          "hgvs_p": null,
          "transcript": "ENST00000526565.5",
          "protein_id": "ENSP00000436385.1",
          "transcript_support_level": 1,
          "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": 2399,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYB",
          "gene_hgnc_id": 7545,
          "hgvs_c": "n.*334C>T",
          "hgvs_p": null,
          "transcript": "ENST00000526889.5",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}