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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: 16-16114859-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16114859&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 16114859,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_004996.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3173G>T",
          "hgvs_p": "p.Arg1058Leu",
          "transcript": "NM_004996.4",
          "protein_id": "NP_004987.2",
          "transcript_support_level": null,
          "aa_start": 1058,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 3173,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000399410.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004996.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3173G>T",
          "hgvs_p": "p.Arg1058Leu",
          "transcript": "ENST00000399410.8",
          "protein_id": "ENSP00000382342.3",
          "transcript_support_level": 1,
          "aa_start": 1058,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 3173,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004996.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399410.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2996G>T",
          "hgvs_p": "p.Arg999Leu",
          "transcript": "ENST00000572882.3",
          "protein_id": "ENSP00000461615.2",
          "transcript_support_level": 1,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 2996,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000572882.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3329G>T",
          "hgvs_p": "p.Arg1110Leu",
          "transcript": "ENST00000914156.1",
          "protein_id": "ENSP00000584215.1",
          "transcript_support_level": null,
          "aa_start": 1110,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": 3329,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914156.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3203G>T",
          "hgvs_p": "p.Arg1068Leu",
          "transcript": "ENST00000399408.7",
          "protein_id": "ENSP00000382340.4",
          "transcript_support_level": 5,
          "aa_start": 1068,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": 3203,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399408.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3161G>T",
          "hgvs_p": "p.Arg1054Leu",
          "transcript": "ENST00000914151.1",
          "protein_id": "ENSP00000584210.1",
          "transcript_support_level": null,
          "aa_start": 1054,
          "aa_end": null,
          "aa_length": 1527,
          "cds_start": 3161,
          "cds_end": null,
          "cds_length": 4584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914151.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3131G>T",
          "hgvs_p": "p.Arg1044Leu",
          "transcript": "ENST00000914157.1",
          "protein_id": "ENSP00000584216.1",
          "transcript_support_level": null,
          "aa_start": 1044,
          "aa_end": null,
          "aa_length": 1517,
          "cds_start": 3131,
          "cds_end": null,
          "cds_length": 4554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914157.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3047G>T",
          "hgvs_p": "p.Arg1016Leu",
          "transcript": "NM_019901.2",
          "protein_id": "NP_063956.2",
          "transcript_support_level": null,
          "aa_start": 1016,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": 3047,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019901.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3047G>T",
          "hgvs_p": "p.Arg1016Leu",
          "transcript": "ENST00000914139.1",
          "protein_id": "ENSP00000584198.1",
          "transcript_support_level": null,
          "aa_start": 1016,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": 3047,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914139.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3035G>T",
          "hgvs_p": "p.Arg1012Leu",
          "transcript": "ENST00000914141.1",
          "protein_id": "ENSP00000584200.1",
          "transcript_support_level": null,
          "aa_start": 1012,
          "aa_end": null,
          "aa_length": 1485,
          "cds_start": 3035,
          "cds_end": null,
          "cds_length": 4458,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914141.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3026G>T",
          "hgvs_p": "p.Arg1009Leu",
          "transcript": "NM_019902.2",
          "protein_id": "NP_063957.2",
          "transcript_support_level": null,
          "aa_start": 1009,
          "aa_end": null,
          "aa_length": 1482,
          "cds_start": 3026,
          "cds_end": null,
          "cds_length": 4449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019902.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3026G>T",
          "hgvs_p": "p.Arg1009Leu",
          "transcript": "ENST00000914140.1",
          "protein_id": "ENSP00000584199.1",
          "transcript_support_level": null,
          "aa_start": 1009,
          "aa_end": null,
          "aa_length": 1482,
          "cds_start": 3026,
          "cds_end": null,
          "cds_length": 4449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914140.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3005G>T",
          "hgvs_p": "p.Arg1002Leu",
          "transcript": "NM_019898.3",
          "protein_id": "NP_063953.2",
          "transcript_support_level": null,
          "aa_start": 1002,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 3005,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019898.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3005G>T",
          "hgvs_p": "p.Arg1002Leu",
          "transcript": "ENST00000914143.1",
          "protein_id": "ENSP00000584202.1",
          "transcript_support_level": null,
          "aa_start": 1002,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 3005,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914143.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2996G>T",
          "hgvs_p": "p.Arg999Leu",
          "transcript": "NM_019862.3",
          "protein_id": "NP_063915.2",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 2996,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019862.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3173G>T",
          "hgvs_p": "p.Arg1058Leu",
          "transcript": "NM_001438755.1",
          "protein_id": "NP_001425684.1",
          "transcript_support_level": null,
          "aa_start": 1058,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": 3173,
          "cds_end": null,
          "cds_length": 4401,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438755.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.3173G>T",
          "hgvs_p": "p.Arg1058Leu",
          "transcript": "ENST00000914148.1",
          "protein_id": "ENSP00000584207.1",
          "transcript_support_level": null,
          "aa_start": 1058,
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          "cds_start": 3173,
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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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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2909G>T",
          "hgvs_p": "p.Arg970Leu",
          "transcript": "ENST00000914142.1",
          "protein_id": "ENSP00000584201.1",
          "transcript_support_level": null,
          "aa_start": 970,
          "aa_end": null,
          "aa_length": 1443,
          "cds_start": 2909,
          "cds_end": null,
          "cds_length": 4332,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2900G>T",
          "hgvs_p": "p.Arg967Leu",
          "transcript": "NM_001438715.1",
          "protein_id": "NP_001425644.1",
          "transcript_support_level": null,
          "aa_start": 967,
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          "aa_length": 1440,
          "cds_start": 2900,
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          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438715.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2900G>T",
          "hgvs_p": "p.Arg967Leu",
          "transcript": "ENST00000914149.1",
          "protein_id": "ENSP00000584208.1",
          "transcript_support_level": null,
          "aa_start": 967,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 2900,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9535962343215942,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.773,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.1718,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.15,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.301,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 6,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_004996.4",
          "gene_symbol": "ABCC1",
          "hgnc_id": 51,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.3173G>T",
          "hgvs_p": "p.Arg1058Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}