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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: 3-48600064-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48600064&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 48600064,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_003365.3",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1301C>A",
          "hgvs_p": "p.Ala434Glu",
          "transcript": "NM_003365.3",
          "protein_id": "NP_003356.2",
          "transcript_support_level": null,
          "aa_start": 434,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1301,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1327,
          "cdna_end": null,
          "cdna_length": 1595,
          "mane_select": "ENST00000203407.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003365.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1301C>A",
          "hgvs_p": "p.Ala434Glu",
          "transcript": "ENST00000203407.6",
          "protein_id": "ENSP00000203407.5",
          "transcript_support_level": 1,
          "aa_start": 434,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1301,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1327,
          "cdna_end": null,
          "cdna_length": 1595,
          "mane_select": "NM_003365.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000203407.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1346C>A",
          "hgvs_p": "p.Ala449Glu",
          "transcript": "ENST00000899333.1",
          "protein_id": "ENSP00000569392.1",
          "transcript_support_level": null,
          "aa_start": 449,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 1346,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 1394,
          "cdna_end": null,
          "cdna_length": 1662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899333.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1292C>A",
          "hgvs_p": "p.Ala431Glu",
          "transcript": "ENST00000912156.1",
          "protein_id": "ENSP00000582215.1",
          "transcript_support_level": null,
          "aa_start": 431,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 1292,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": 1318,
          "cdna_end": null,
          "cdna_length": 1586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912156.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1259C>A",
          "hgvs_p": "p.Ala420Glu",
          "transcript": "ENST00000714195.1",
          "protein_id": "ENSP00000519484.1",
          "transcript_support_level": null,
          "aa_start": 420,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1259,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 1285,
          "cdna_end": null,
          "cdna_length": 1551,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000714195.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1217C>A",
          "hgvs_p": "p.Ala406Glu",
          "transcript": "ENST00000899335.1",
          "protein_id": "ENSP00000569394.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 452,
          "cds_start": 1217,
          "cds_end": null,
          "cds_length": 1359,
          "cdna_start": 1232,
          "cdna_end": null,
          "cdna_length": 1500,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899335.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1214C>A",
          "hgvs_p": "p.Ala405Glu",
          "transcript": "ENST00000899334.1",
          "protein_id": "ENSP00000569393.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": 1214,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": 1253,
          "cdna_end": null,
          "cdna_length": 1519,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899334.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.1019C>A",
          "hgvs_p": "p.Ala340Glu",
          "transcript": "ENST00000951190.1",
          "protein_id": "ENSP00000621249.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 386,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1161,
          "cdna_start": 1044,
          "cdna_end": null,
          "cdna_length": 1310,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951190.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.992C>A",
          "hgvs_p": "p.Ala331Glu",
          "transcript": "ENST00000951191.1",
          "protein_id": "ENSP00000621250.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": 1011,
          "cdna_end": null,
          "cdna_length": 1275,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951191.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "c.337-357C>A",
          "hgvs_p": null,
          "transcript": "ENST00000912155.1",
          "protein_id": "ENSP00000582214.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 157,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 474,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 626,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912155.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.*1149C>A",
          "hgvs_p": null,
          "transcript": "ENST00000412343.6",
          "protein_id": "ENSP00000388660.1",
          "transcript_support_level": 3,
          "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": 1664,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000412343.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.*799C>A",
          "hgvs_p": null,
          "transcript": "ENST00000415995.5",
          "protein_id": "ENSP00000393696.1",
          "transcript_support_level": 5,
          "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": 1387,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000415995.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.1460C>A",
          "hgvs_p": null,
          "transcript": "ENST00000471189.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 1728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000471189.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.336C>A",
          "hgvs_p": null,
          "transcript": "ENST00000480561.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1014,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000480561.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.*799C>A",
          "hgvs_p": null,
          "transcript": "ENST00000714196.1",
          "protein_id": "ENSP00000519485.1",
          "transcript_support_level": null,
          "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": 1452,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000714196.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.*69C>A",
          "hgvs_p": null,
          "transcript": "ENST00000714197.1",
          "protein_id": "ENSP00000519486.1",
          "transcript_support_level": null,
          "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": 1507,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000714197.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.1375C>A",
          "hgvs_p": null,
          "transcript": "ENST00000714198.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000714198.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.2154C>A",
          "hgvs_p": null,
          "transcript": "ENST00000714199.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3214,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000714199.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.*1149C>A",
          "hgvs_p": null,
          "transcript": "ENST00000412343.6",
          "protein_id": "ENSP00000388660.1",
          "transcript_support_level": 3,
          "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": 1664,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000412343.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UQCRC1",
          "gene_hgnc_id": 12585,
          "hgvs_c": "n.*799C>A",
          "hgvs_p": null,
          "transcript": "ENST00000415995.5",
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      "gene_symbol": "UQCRC1",
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      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.09461471438407898,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.29600000381469727,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.084,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1502,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.62,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.651,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
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      "acmg_score": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BS2_Supporting",
      "acmg_by_gene": [
        {
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          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BS2_Supporting"
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          "verdict": "Likely_benign",
          "transcript": "NM_003365.3",
          "gene_symbol": "UQCRC1",
          "hgnc_id": 12585,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.1301C>A",
          "hgvs_p": "p.Ala434Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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