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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: 10-114441724-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114441724&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 114441724,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_002313.7",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1996C>T",
          "hgvs_p": "p.Arg666Trp",
          "transcript": "NM_002313.7",
          "protein_id": "NP_002304.3",
          "transcript_support_level": null,
          "aa_start": 666,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1996,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2071,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "ENST00000533213.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1996C>T",
          "hgvs_p": "p.Arg666Trp",
          "transcript": "ENST00000533213.7",
          "protein_id": "ENSP00000433629.3",
          "transcript_support_level": 5,
          "aa_start": 666,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1996,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2071,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "NM_002313.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2164C>T",
          "hgvs_p": "p.Arg722Trp",
          "transcript": "ENST00000649363.1",
          "protein_id": "ENSP00000497150.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": 2164,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": 2247,
          "cdna_end": null,
          "cdna_length": 2670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1906C>T",
          "hgvs_p": "p.Arg636Trp",
          "transcript": "NM_001322882.2",
          "protein_id": "NP_001309811.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2556,
          "cdna_end": null,
          "cdna_length": 8047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1906C>T",
          "hgvs_p": "p.Arg636Trp",
          "transcript": "ENST00000369256.6",
          "protein_id": "ENSP00000358260.3",
          "transcript_support_level": 5,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2556,
          "cdna_end": null,
          "cdna_length": 3203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1816C>T",
          "hgvs_p": "p.Arg606Trp",
          "transcript": "NM_001003407.2",
          "protein_id": "NP_001003407.1",
          "transcript_support_level": null,
          "aa_start": 606,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1816,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1906,
          "cdna_end": null,
          "cdna_length": 7395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1816C>T",
          "hgvs_p": "p.Arg606Trp",
          "transcript": "ENST00000392955.8",
          "protein_id": "ENSP00000376682.4",
          "transcript_support_level": 5,
          "aa_start": 606,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1816,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1920,
          "cdna_end": null,
          "cdna_length": 7411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1711C>T",
          "hgvs_p": "p.Arg571Trp",
          "transcript": "NM_001322883.2",
          "protein_id": "NP_001309812.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1711,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 1801,
          "cdna_end": null,
          "cdna_length": 7290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1666C>T",
          "hgvs_p": "p.Arg556Trp",
          "transcript": "NM_001322884.3",
          "protein_id": "NP_001309813.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1666,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1897,
          "cdna_end": null,
          "cdna_length": 7386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1660C>T",
          "hgvs_p": "p.Arg554Trp",
          "transcript": "NM_001322885.3",
          "protein_id": "NP_001309814.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 1891,
          "cdna_end": null,
          "cdna_length": 7380,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1627C>T",
          "hgvs_p": "p.Arg543Trp",
          "transcript": "NM_001352440.1",
          "protein_id": "NP_001339369.1",
          "transcript_support_level": null,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": 1627,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": 2107,
          "cdna_end": null,
          "cdna_length": 7598,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
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          "hgvs_c": "c.1627C>T",
          "hgvs_p": "p.Arg543Trp",
          "transcript": "ENST00000651023.2",
          "protein_id": "ENSP00000499023.2",
          "transcript_support_level": null,
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          "cds_start": 1627,
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          "cds_length": 1968,
          "cdna_start": 1802,
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          "cdna_length": 2944,
          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1624C>T",
          "hgvs_p": "p.Arg542Trp",
          "transcript": "NM_001322886.3",
          "protein_id": "NP_001309815.1",
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          "aa_start": 542,
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          "cds_start": 1624,
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          "cds_length": 1965,
          "cdna_start": 1855,
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1570C>T",
          "hgvs_p": "p.Arg524Trp",
          "transcript": "NM_001322887.2",
          "protein_id": "NP_001309816.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1522C>T",
          "hgvs_p": "p.Arg508Trp",
          "transcript": "NM_001352441.1",
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          "cdna_start": 2002,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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            "splice_region_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1522C>T",
          "hgvs_p": "p.Arg508Trp",
          "transcript": "ENST00000707119.1",
          "protein_id": "ENSP00000516747.1",
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        },
        {
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          "strand": false,
          "consequences": [
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            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1435C>T",
          "hgvs_p": "p.Arg479Trp",
          "transcript": "NM_001352442.2",
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        {
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1054C>T",
          "hgvs_p": "p.Arg352Trp",
          "transcript": "NM_001352443.2",
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        {
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            "splice_region_variant"
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          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
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          "transcript": "NM_001322888.2",
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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1027C>T",
          "hgvs_p": "p.Arg343Trp",
          "transcript": "NM_006720.4",
          "protein_id": "NP_006711.3",
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          "cdna_start": 1335,
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      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6270942687988281,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.4059999883174896,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.338,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.8887,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.15,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 3.155,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.0896878897773148,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_002313.7",
          "gene_symbol": "ABLIM1",
          "hgnc_id": 78,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1996C>T",
          "hgvs_p": "p.Arg666Trp"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}