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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: 17-15260707-ACT-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15260707&ref=ACT&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 15260707,
      "ref": "ACT",
      "alt": "A",
      "effect": "frameshift_variant",
      "transcript": "NM_000304.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "NM_000304.4",
          "protein_id": "NP_000295.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 227,
          "cdna_end": null,
          "cdna_length": 1828,
          "mane_select": "ENST00000312280.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000304.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000312280.9",
          "protein_id": "ENSP00000308937.3",
          "transcript_support_level": 1,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 227,
          "cdna_end": null,
          "cdna_length": 1828,
          "mane_select": "NM_000304.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000312280.9"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000395938.7",
          "protein_id": "ENSP00000379269.3",
          "transcript_support_level": 1,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 217,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 654,
          "cdna_start": 213,
          "cdna_end": null,
          "cdna_length": 1803,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395938.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.-27+4445_-27+4446delAG",
          "hgvs_p": null,
          "transcript": "ENST00000494511.7",
          "protein_id": "ENSP00000462782.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 92,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 279,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000494511.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000674947.1",
          "protein_id": "ENSP00000501580.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 217,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 654,
          "cdna_start": 111,
          "cdna_end": null,
          "cdna_length": 1662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674947.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000676329.1",
          "protein_id": "ENSP00000501698.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": 54,
          "cdna_end": null,
          "cdna_length": 1757,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676329.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000901372.1",
          "protein_id": "ENSP00000571431.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 167,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 504,
          "cdna_start": 178,
          "cdna_end": null,
          "cdna_length": 1793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000901372.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000675551.1",
          "protein_id": "ENSP00000501945.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": 54,
          "cdna_end": null,
          "cdna_length": 1822,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675551.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "NM_001281455.2",
          "protein_id": "NP_001268384.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 182,
          "cdna_end": null,
          "cdna_length": 1783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001281455.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "NM_001281456.2",
          "protein_id": "NP_001268385.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 223,
          "cdna_end": null,
          "cdna_length": 1824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001281456.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "NM_153321.3",
          "protein_id": "NP_696996.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 178,
          "cdna_end": null,
          "cdna_length": 1779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153321.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "NM_153322.3",
          "protein_id": "NP_696997.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
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          "cds_length": 483,
          "cdna_start": 113,
          "cdna_end": null,
          "cdna_length": 1714,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153322.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000612492.5",
          "protein_id": "ENSP00000484631.1",
          "transcript_support_level": 3,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
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          "cdna_start": 227,
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          "cdna_length": 1828,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000612492.5"
        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000674651.1",
          "protein_id": "ENSP00000501727.1",
          "transcript_support_level": null,
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          "cdna_length": 1755,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "S",
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          ],
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          "gene_symbol": "PMP22",
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          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000674673.1",
          "protein_id": "ENSP00000501804.1",
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          "cdna_start": 816,
          "cdna_end": null,
          "cdna_length": 2423,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674673.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000674868.1",
          "protein_id": "ENSP00000502835.1",
          "transcript_support_level": null,
          "aa_start": 7,
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          "cds_start": 19,
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          "cds_length": 483,
          "cdna_start": 651,
          "cdna_end": null,
          "cdna_length": 1312,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000674868.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000675350.1",
          "protein_id": "ENSP00000501557.1",
          "transcript_support_level": null,
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          "cdna_start": 390,
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          "biotype": "protein_coding",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
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          "transcript": "ENST00000675808.1",
          "protein_id": "ENSP00000502310.1",
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          "cdna_length": 2047,
          "mane_select": null,
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PMP22",
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          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000675819.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PMP22",
          "gene_hgnc_id": 9118,
          "hgvs_c": "c.19_20delAG",
          "hgvs_p": "p.Ser7fs",
          "transcript": "ENST00000675950.1",
          "protein_id": "ENSP00000501546.1",
          "transcript_support_level": null,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 19,
          "cds_end": null,
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          "cdna_start": 194,
          "cdna_end": null,
          "cdna_length": 1789,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000675950.1"
        },
        {
          "aa_ref": "S",
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          "transcript": "NM_000304.4",
          "gene_symbol": "PMP22",
          "hgnc_id": 9118,
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        {
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          "verdict": "Uncertain_significance",
          "transcript": "ENST00000623265.1",
          "gene_symbol": "ENSG00000279660",
          "hgnc_id": null,
          "effects": [
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        {
          "score": 3,
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            "PP5"
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          "verdict": "Uncertain_significance",
          "transcript": "ENST00000833034.1",
          "gene_symbol": "ENSG00000265445",
          "hgnc_id": null,
          "effects": [
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        },
        {
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          "criteria": [
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            "PP5"
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          "verdict": "Uncertain_significance",
          "transcript": "XR_007065632.1",
          "gene_symbol": "LOC124903931",
          "hgnc_id": null,
          "effects": [
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          ],
          "inheritance_mode": "",
          "hgvs_c": "n.-251_-250delCT",
          "hgvs_p": null
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      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease,Hereditary liability to pressure palsies",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Hereditary liability to pressure palsies|Charcot-Marie-Tooth disease",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.