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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: 12-18699796-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=18699796&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 18699796,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "ENST00000266505.12",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1172G>A",
          "hgvs_p": "p.Arg391Gln",
          "transcript": "NM_033123.4",
          "protein_id": "NP_149114.2",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1172,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 1391,
          "cdna_end": null,
          "cdna_length": 2105,
          "mane_select": "ENST00000266505.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1172G>A",
          "hgvs_p": "p.Arg391Gln",
          "transcript": "ENST00000266505.12",
          "protein_id": "ENSP00000266505.7",
          "transcript_support_level": 1,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1172,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 1391,
          "cdna_end": null,
          "cdna_length": 2105,
          "mane_select": "NM_033123.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1295G>A",
          "hgvs_p": "p.Arg432Gln",
          "transcript": "ENST00000648272.1",
          "protein_id": "ENSP00000497636.1",
          "transcript_support_level": null,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 1295,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": 1602,
          "cdna_end": null,
          "cdna_length": 2320,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.593G>A",
          "hgvs_p": "p.Arg198Gln",
          "transcript": "ENST00000539875.5",
          "protein_id": "ENSP00000445026.1",
          "transcript_support_level": 1,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 593,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": 691,
          "cdna_end": null,
          "cdna_length": 1398,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "n.*1037G>A",
          "hgvs_p": null,
          "transcript": "ENST00000318197.10",
          "protein_id": "ENSP00000326397.6",
          "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": 2113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "n.*1037G>A",
          "hgvs_p": null,
          "transcript": "ENST00000318197.10",
          "protein_id": "ENSP00000326397.6",
          "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": 2113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.860G>A",
          "hgvs_p": "p.Arg287Gln",
          "transcript": "NM_001330774.2",
          "protein_id": "NP_001317703.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 860,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1394,
          "cdna_end": null,
          "cdna_length": 2108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.593G>A",
          "hgvs_p": "p.Arg198Gln",
          "transcript": "NM_001330769.1",
          "protein_id": "NP_001317698.1",
          "transcript_support_level": null,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 593,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": 731,
          "cdna_end": null,
          "cdna_length": 1445,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.518G>A",
          "hgvs_p": "p.Arg173Gln",
          "transcript": "ENST00000538330.5",
          "protein_id": "ENSP00000445880.1",
          "transcript_support_level": 2,
          "aa_start": 173,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": 518,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": 900,
          "cdna_end": null,
          "cdna_length": 1612,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.377G>A",
          "hgvs_p": "p.Arg126Gln",
          "transcript": "ENST00000540421.5",
          "protein_id": "ENSP00000445889.1",
          "transcript_support_level": 3,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 264,
          "cds_start": 377,
          "cds_end": null,
          "cds_length": 797,
          "cdna_start": 377,
          "cdna_end": null,
          "cdna_length": 797,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1295G>A",
          "hgvs_p": "p.Arg432Gln",
          "transcript": "XM_017020176.2",
          "protein_id": "XP_016875665.1",
          "transcript_support_level": null,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": 1295,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": 1514,
          "cdna_end": null,
          "cdna_length": 2214,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1172G>A",
          "hgvs_p": "p.Arg391Gln",
          "transcript": "XM_017020177.2",
          "protein_id": "XP_016875666.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1172,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 1391,
          "cdna_end": null,
          "cdna_length": 2091,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1145G>A",
          "hgvs_p": "p.Arg382Gln",
          "transcript": "XM_017020178.2",
          "protein_id": "XP_016875667.1",
          "transcript_support_level": null,
          "aa_start": 382,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1145,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 1364,
          "cdna_end": null,
          "cdna_length": 2064,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.1295G>A",
          "hgvs_p": "p.Arg432Gln",
          "transcript": "XM_047429827.1",
          "protein_id": "XP_047285783.1",
          "transcript_support_level": null,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1295,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": 1514,
          "cdna_end": null,
          "cdna_length": 1892,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.731G>A",
          "hgvs_p": "p.Arg244Gln",
          "transcript": "XM_017020182.2",
          "protein_id": "XP_016875671.1",
          "transcript_support_level": null,
          "aa_start": 244,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 731,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": 815,
          "cdna_end": null,
          "cdna_length": 1515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.716G>A",
          "hgvs_p": "p.Arg239Gln",
          "transcript": "XM_017020183.2",
          "protein_id": "XP_016875672.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 716,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 935,
          "cdna_end": null,
          "cdna_length": 1635,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.731G>A",
          "hgvs_p": "p.Arg244Gln",
          "transcript": "XM_024449254.2",
          "protein_id": "XP_024305022.1",
          "transcript_support_level": null,
          "aa_start": 244,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 731,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 844,
          "cdna_end": null,
          "cdna_length": 1558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.584G>A",
          "hgvs_p": "p.Arg195Gln",
          "transcript": "XM_017020184.2",
          "protein_id": "XP_016875673.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 584,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": 899,
          "cdna_end": null,
          "cdna_length": 1599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.593G>A",
          "hgvs_p": "p.Arg198Gln",
          "transcript": "XM_024449255.2",
          "protein_id": "XP_024305023.1",
          "transcript_support_level": null,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 593,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": 812,
          "cdna_end": null,
          "cdna_length": 1526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCZ1",
          "gene_hgnc_id": 19218,
          "hgvs_c": "c.518G>A",
          "hgvs_p": "p.Arg173Gln",
          "transcript": "XM_017020185.3",
          "protein_id": "XP_016875674.1",
          "transcript_support_level": null,
          "aa_start": 173,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": 518,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": 868,
          "cdna_end": null,
          "cdna_length": 1568,
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        {
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      ],
      "gene_symbol": "PLCZ1",
      "gene_hgnc_id": 19218,
      "dbsnp": "rs868146904",
      "frequency_reference_population": 0.000008060126,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 13,
      "gnomad_exomes_af": 0.00000752991,
      "gnomad_genomes_af": 0.0000131546,
      "gnomad_exomes_ac": 11,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.057130008935928345,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.134,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0915,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.469,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.00000988862696076609,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000266505.12",
          "gene_symbol": "PLCZ1",
          "hgnc_id": 19218,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1172G>A",
          "hgvs_p": "p.Arg391Gln"
        },
        {
          "score": -2,
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          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XM_017019471.2",
          "gene_symbol": "PIK3C2G",
          "hgnc_id": 8973,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.4309-15890C>T",
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      ],
      "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
}