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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: 6-33320452-CTT-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33320452&ref=CTT&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 33320452,
      "ref": "CTT",
      "alt": "C",
      "effect": "frameshift_variant",
      "transcript": "NM_001141970.2",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "NM_001141969.2",
          "protein_id": "NP_001135441.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000374542.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001141969.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000374542.10",
          "protein_id": "ENSP00000363668.5",
          "transcript_support_level": 1,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001141969.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000374542.10"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000266000.10",
          "protein_id": "ENSP00000266000.6",
          "transcript_support_level": 1,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000266000.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "n.7_8delAA",
          "hgvs_p": null,
          "transcript": "ENST00000490173.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000490173.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1213_1214delAA",
          "hgvs_p": "p.Lys405fs",
          "transcript": "NM_001141970.2",
          "protein_id": "NP_001135442.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 1213,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001141970.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1213_1214delAA",
          "hgvs_p": "p.Lys405fs",
          "transcript": "ENST00000706094.1",
          "protein_id": "ENSP00000516212.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 1213,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000706094.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000859776.1",
          "protein_id": "ENSP00000529835.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859776.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "NM_001350.5",
          "protein_id": "NP_001341.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000859774.1",
          "protein_id": "ENSP00000529833.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859774.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000859781.1",
          "protein_id": "ENSP00000529840.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859781.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000932661.1",
          "protein_id": "ENSP00000602720.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932661.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000932667.1",
          "protein_id": "ENSP00000602726.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932667.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000932668.1",
          "protein_id": "ENSP00000602727.1",
          "transcript_support_level": null,
          "aa_start": 393,
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          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932668.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000932669.1",
          "protein_id": "ENSP00000602728.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000932669.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000932670.1",
          "protein_id": "ENSP00000602729.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1177,
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          "cds_length": 2223,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000932670.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000932671.1",
          "protein_id": "ENSP00000602730.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
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          "cds_start": 1177,
          "cds_end": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000932671.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
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          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1177_1178delAA",
          "hgvs_p": "p.Lys393fs",
          "transcript": "ENST00000859780.1",
          "protein_id": "ENSP00000529839.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1177,
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          "cds_length": 2217,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000859780.1"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1156_1157delAA",
          "hgvs_p": "p.Lys386fs",
          "transcript": "ENST00000932663.1",
          "protein_id": "ENSP00000602722.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": 1156,
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          "cds_length": 2202,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1153_1154delAA",
          "hgvs_p": "p.Lys385fs",
          "transcript": "ENST00000932664.1",
          "protein_id": "ENSP00000602723.1",
          "transcript_support_level": null,
          "aa_start": 385,
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          "cds_start": 1153,
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          "cds_length": 2199,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932664.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAXX",
          "gene_hgnc_id": 2681,
          "hgvs_c": "c.1108_1109delAA",
          "hgvs_p": "p.Lys370fs",
          "transcript": "ENST00000859779.1",
          "protein_id": "ENSP00000529838.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1108,
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          "cds_length": 2154,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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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
}