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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: 7-149721467-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=149721467&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 149721467,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000496259.6",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg",
          "transcript": "NM_001290187.2",
          "protein_id": "NP_001277116.1",
          "transcript_support_level": null,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 500,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 604,
          "cdna_end": null,
          "cdna_length": 3827,
          "mane_select": "ENST00000496259.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRBA1",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg",
          "transcript": "ENST00000496259.6",
          "protein_id": "ENSP00000418647.3",
          "transcript_support_level": 1,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 500,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 604,
          "cdna_end": null,
          "cdna_length": 3827,
          "mane_select": "NM_001290187.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRBA1",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.398C>G",
          "hgvs_p": "p.Thr133Arg",
          "transcript": "ENST00000319551.12",
          "protein_id": "ENSP00000317165.9",
          "transcript_support_level": 1,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1030,
          "cds_start": 398,
          "cds_end": null,
          "cds_length": 3093,
          "cdna_start": 797,
          "cdna_end": null,
          "cdna_length": 4020,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRBA1",
          "gene_hgnc_id": 22228,
          "hgvs_c": "n.266C>G",
          "hgvs_p": null,
          "transcript": "ENST00000621069.1",
          "protein_id": "ENSP00000479341.1",
          "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": 3449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.566C>G",
          "hgvs_p": "p.Thr189Arg",
          "transcript": "NM_001394491.1",
          "protein_id": "NP_001381420.1",
          "transcript_support_level": null,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 1086,
          "cds_start": 566,
          "cds_end": null,
          "cds_length": 3261,
          "cdna_start": 670,
          "cdna_end": null,
          "cdna_length": 3893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg",
          "transcript": "NM_001394478.1",
          "protein_id": "NP_001381407.1",
          "transcript_support_level": null,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 1080,
          "cds_start": 500,
          "cds_end": null,
          "cds_length": 3243,
          "cdna_start": 604,
          "cdna_end": null,
          "cdna_length": 3875,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.503C>G",
          "hgvs_p": "p.Thr168Arg",
          "transcript": "NM_001394479.1",
          "protein_id": "NP_001381408.1",
          "transcript_support_level": null,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 1065,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 3198,
          "cdna_start": 607,
          "cdna_end": null,
          "cdna_length": 3830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.458C>G",
          "hgvs_p": "p.Thr153Arg",
          "transcript": "NM_001394480.1",
          "protein_id": "NP_001381409.1",
          "transcript_support_level": null,
          "aa_start": 153,
          "aa_end": null,
          "aa_length": 1050,
          "cds_start": 458,
          "cds_end": null,
          "cds_length": 3153,
          "cdna_start": 562,
          "cdna_end": null,
          "cdna_length": 3785,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.455C>G",
          "hgvs_p": "p.Thr152Arg",
          "transcript": "NM_001394481.1",
          "protein_id": "NP_001381410.1",
          "transcript_support_level": null,
          "aa_start": 152,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 455,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 559,
          "cdna_end": null,
          "cdna_length": 3782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.398C>G",
          "hgvs_p": "p.Thr133Arg",
          "transcript": "NM_032534.4",
          "protein_id": "NP_115923.2",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1030,
          "cds_start": 398,
          "cds_end": null,
          "cds_length": 3093,
          "cdna_start": 903,
          "cdna_end": null,
          "cdna_length": 4126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.395C>G",
          "hgvs_p": "p.Thr132Arg",
          "transcript": "NM_001394482.1",
          "protein_id": "NP_001381411.1",
          "transcript_support_level": null,
          "aa_start": 132,
          "aa_end": null,
          "aa_length": 1029,
          "cds_start": 395,
          "cds_end": null,
          "cds_length": 3090,
          "cdna_start": 617,
          "cdna_end": null,
          "cdna_length": 3840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.395C>G",
          "hgvs_p": "p.Thr132Arg",
          "transcript": "NM_001394483.1",
          "protein_id": "NP_001381412.1",
          "transcript_support_level": null,
          "aa_start": 132,
          "aa_end": null,
          "aa_length": 1029,
          "cds_start": 395,
          "cds_end": null,
          "cds_length": 3090,
          "cdna_start": 728,
          "cdna_end": null,
          "cdna_length": 3951,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg",
          "transcript": "NM_001394484.1",
          "protein_id": "NP_001381413.1",
          "transcript_support_level": null,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 1003,
          "cds_start": 500,
          "cds_end": null,
          "cds_length": 3012,
          "cdna_start": 604,
          "cdna_end": null,
          "cdna_length": 3644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.398C>G",
          "hgvs_p": "p.Thr133Arg",
          "transcript": "NM_001394485.1",
          "protein_id": "NP_001381414.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 969,
          "cds_start": 398,
          "cds_end": null,
          "cds_length": 2910,
          "cdna_start": 620,
          "cdna_end": null,
          "cdna_length": 3660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRBA1",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.398C>G",
          "hgvs_p": "p.Thr133Arg",
          "transcript": "ENST00000485033.6",
          "protein_id": "ENSP00000420112.2",
          "transcript_support_level": 5,
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          "aa_length": 969,
          "cds_start": 398,
          "cds_end": null,
          "cds_length": 2910,
          "cdna_start": 398,
          "cdna_end": null,
          "cdna_length": 3434,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.503C>G",
          "hgvs_p": "p.Thr168Arg",
          "transcript": "NM_001394486.1",
          "protein_id": "NP_001381415.1",
          "transcript_support_level": null,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": 607,
          "cdna_end": null,
          "cdna_length": 3807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg",
          "transcript": "NM_001394487.1",
          "protein_id": "NP_001381416.1",
          "transcript_support_level": null,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 759,
          "cds_start": 500,
          "cds_end": null,
          "cds_length": 2280,
          "cdna_start": 604,
          "cdna_end": null,
          "cdna_length": 3804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.350C>G",
          "hgvs_p": "p.Thr117Arg",
          "transcript": "NM_001394488.1",
          "protein_id": "NP_001381417.1",
          "transcript_support_level": null,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 709,
          "cds_start": 350,
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          "cds_length": 2130,
          "cdna_start": 572,
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          "cdna_length": 3772,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg",
          "transcript": "NM_001394489.1",
          "protein_id": "NP_001381418.1",
          "transcript_support_level": null,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 698,
          "cds_start": 500,
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          "cds_length": 2097,
          "cdna_start": 604,
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          "cdna_length": 3621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KRABD3",
          "gene_hgnc_id": 22228,
          "hgvs_c": "c.455C>G",
          "hgvs_p": "p.Thr152Arg",
          "transcript": "NM_001394490.1",
          "protein_id": "NP_001381419.1",
          "transcript_support_level": null,
          "aa_start": 152,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 455,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 559,
          "cdna_end": null,
          "cdna_length": 3576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
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      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.41,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.018,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000496259.6",
          "gene_symbol": "KRBA1",
          "hgnc_id": 22228,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.500C>G",
          "hgvs_p": "p.Thr167Arg"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001394491.1",
          "gene_symbol": "KRABD3",
          "hgnc_id": 22228,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.566C>G",
          "hgvs_p": "p.Thr189Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}