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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: 14-60283647-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60283647&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 60283647,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_177952.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "NM_021003.5",
          "protein_id": "NP_066283.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000395076.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_021003.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000395076.9",
          "protein_id": "ENSP00000378514.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_021003.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395076.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000325658.3",
          "protein_id": "ENSP00000314850.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 324,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 975,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000325658.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "n.*858+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000531143.6",
          "protein_id": "ENSP00000437200.2",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000531143.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.1053+110C>T",
          "hgvs_p": null,
          "transcript": "NM_177952.3",
          "protein_id": "NP_808821.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_177952.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.1053+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000325642.7",
          "protein_id": "ENSP00000327255.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000325642.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893041.1",
          "protein_id": "ENSP00000563100.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893041.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893042.1",
          "protein_id": "ENSP00000563101.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893042.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893044.1",
          "protein_id": "ENSP00000563103.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893044.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893045.1",
          "protein_id": "ENSP00000563104.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893045.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893046.1",
          "protein_id": "ENSP00000563105.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893046.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893047.1",
          "protein_id": "ENSP00000563106.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893047.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893048.1",
          "protein_id": "ENSP00000563107.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
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          "cds_length": 1149,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000893048.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893049.1",
          "protein_id": "ENSP00000563108.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000893049.1"
        },
        {
          "aa_ref": null,
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          "strand": true,
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          ],
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          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893050.1",
          "protein_id": "ENSP00000563109.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893050.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893051.1",
          "protein_id": "ENSP00000563110.1",
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          "aa_start": null,
          "aa_end": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893052.1",
          "protein_id": "ENSP00000563111.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
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          "transcript": "ENST00000893053.1",
          "protein_id": "ENSP00000563112.1",
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          "feature": "ENST00000893053.1"
        },
        {
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          "protein_coding": true,
          "strand": true,
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            "intron_variant"
          ],
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          "exon_count": 12,
          "intron_rank": 8,
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          "gene_symbol": "PPM1A",
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          "transcript": "ENST00000893054.1",
          "protein_id": "ENSP00000563113.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPM1A",
          "gene_hgnc_id": 9275,
          "hgvs_c": "c.834+110C>T",
          "hgvs_p": null,
          "transcript": "ENST00000893055.1",
          "protein_id": "ENSP00000563114.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
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          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000893055.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
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      "gnomad_exomes_af": 0.337744,
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      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9399999976158142,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
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      "bayesdelnoaf_score": -0.94,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.927,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
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          "verdict": "Benign",
          "transcript": "NM_177952.3",
          "gene_symbol": "PPM1A",
          "hgnc_id": 9275,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1053+110C>T",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}