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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: 9-83975466-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83975466&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 83975466,
      "ref": "C",
      "alt": "A",
      "effect": "stop_gained",
      "transcript": "ENST00000376263.8",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "NM_031263.4",
          "protein_id": "NP_112553.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 423,
          "cdna_end": null,
          "cdna_length": 2889,
          "mane_select": "ENST00000376263.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000376263.8",
          "protein_id": "ENSP00000365439.3",
          "transcript_support_level": 1,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 423,
          "cdna_end": null,
          "cdna_length": 2889,
          "mane_select": "NM_031263.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000376281.8",
          "protein_id": "ENSP00000365458.4",
          "transcript_support_level": 1,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 462,
          "cdna_end": null,
          "cdna_length": 2928,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000360384.9",
          "protein_id": "ENSP00000353552.5",
          "transcript_support_level": 1,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 458,
          "cdna_end": null,
          "cdna_length": 2038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "NM_002140.5",
          "protein_id": "NP_002131.2",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 473,
          "cdna_end": null,
          "cdna_length": 2939,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704005.1",
          "protein_id": "ENSP00000515618.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 398,
          "cdna_end": null,
          "cdna_length": 2826,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704011.1",
          "protein_id": "ENSP00000515624.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 427,
          "cdna_end": null,
          "cdna_length": 2591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704057.1",
          "protein_id": "ENSP00000515660.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 381,
          "cdna_end": null,
          "cdna_length": 1955,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704059.1",
          "protein_id": "ENSP00000515662.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 571,
          "cdna_end": null,
          "cdna_length": 1845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "NM_001318188.2",
          "protein_id": "NP_001305117.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 423,
          "cdna_end": null,
          "cdna_length": 2829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "NM_031262.4",
          "protein_id": "NP_112552.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 473,
          "cdna_end": null,
          "cdna_length": 2879,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704006.1",
          "protein_id": "ENSP00000515619.1",
          "transcript_support_level": null,
          "aa_start": 85,
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          "aa_length": 463,
          "cds_start": 253,
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          "cdna_start": 463,
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          "cdna_length": 2721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704051.1",
          "protein_id": "ENSP00000515654.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 253,
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          "cdna_start": 545,
          "cdna_end": null,
          "cdna_length": 2758,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704052.1",
          "protein_id": "ENSP00000515655.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 374,
          "cdna_end": null,
          "cdna_length": 2448,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
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          "mane_select": null,
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704058.1",
          "protein_id": "ENSP00000515661.1",
          "transcript_support_level": null,
          "aa_start": 85,
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          "cds_start": 253,
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          "cds_length": 1392,
          "cdna_start": 381,
          "cdna_end": null,
          "cdna_length": 1895,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704012.1",
          "protein_id": "ENSP00000515625.1",
          "transcript_support_level": null,
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          "cds_start": 253,
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          "cds_length": 1380,
          "cdna_start": 488,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
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          "transcript": "ENST00000704010.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HNRNPK",
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          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704014.1",
          "protein_id": "ENSP00000515627.1",
          "transcript_support_level": null,
          "aa_start": 85,
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          "cds_start": 253,
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          "cds_length": 1361,
          "cdna_start": 540,
          "cdna_end": null,
          "cdna_length": 1648,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPK",
          "gene_hgnc_id": 5044,
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*",
          "transcript": "ENST00000704015.1",
          "protein_id": "ENSP00000515628.1",
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2",
      "acmg_by_gene": [
        {
          "score": 10,
          "benign_score": 0,
          "pathogenic_score": 10,
          "criteria": [
            "PVS1",
            "PM2"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000376263.8",
          "gene_symbol": "HNRNPK",
          "hgnc_id": 5044,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.253G>T",
          "hgvs_p": "p.Glu85*"
        },
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000448389.2",
          "gene_symbol": "HNRNPK-AS1",
          "hgnc_id": 56061,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.448C>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}