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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: 11-134157060-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=134157060&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 134157060,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_015261.3",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "NM_015261.3",
          "protein_id": "NP_056076.1",
          "transcript_support_level": null,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1498,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000534548.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015261.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "ENST00000534548.7",
          "protein_id": "ENSP00000433681.3",
          "transcript_support_level": 1,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1498,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_015261.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000534548.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "n.*1852G>A",
          "hgvs_p": null,
          "transcript": "ENST00000525964.7",
          "protein_id": "ENSP00000431612.2",
          "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": "ENST00000525964.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "n.*1852G>A",
          "hgvs_p": null,
          "transcript": "ENST00000525964.7",
          "protein_id": "ENSP00000431612.2",
          "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": "ENST00000525964.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "ENST00000685324.1",
          "protein_id": "ENSP00000508707.1",
          "transcript_support_level": null,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1498,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685324.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "ENST00000688672.1",
          "protein_id": "ENSP00000510391.1",
          "transcript_support_level": null,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1498,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000688672.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4207G>A",
          "hgvs_p": "p.Glu1403Lys",
          "transcript": "ENST00000957781.1",
          "protein_id": "ENSP00000627840.1",
          "transcript_support_level": null,
          "aa_start": 1403,
          "aa_end": null,
          "aa_length": 1497,
          "cds_start": 4207,
          "cds_end": null,
          "cds_length": 4494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957781.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4195G>A",
          "hgvs_p": "p.Glu1399Lys",
          "transcript": "ENST00000957782.1",
          "protein_id": "ENSP00000627841.1",
          "transcript_support_level": null,
          "aa_start": 1399,
          "aa_end": null,
          "aa_length": 1493,
          "cds_start": 4195,
          "cds_end": null,
          "cds_length": 4482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957782.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "NM_001372068.1",
          "protein_id": "NP_001358997.1",
          "transcript_support_level": null,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1484,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001372068.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "ENST00000688263.1",
          "protein_id": "ENSP00000510008.1",
          "transcript_support_level": null,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1484,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000688263.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4144G>A",
          "hgvs_p": "p.Glu1382Lys",
          "transcript": "ENST00000912041.1",
          "protein_id": "ENSP00000582100.1",
          "transcript_support_level": null,
          "aa_start": 1382,
          "aa_end": null,
          "aa_length": 1476,
          "cds_start": 4144,
          "cds_end": null,
          "cds_length": 4431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912041.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4210G>A",
          "hgvs_p": "p.Glu1404Lys",
          "transcript": "NM_001372065.1",
          "protein_id": "NP_001358994.1",
          "transcript_support_level": null,
          "aa_start": 1404,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": 4210,
          "cds_end": null,
          "cds_length": 4401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001372065.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.4039G>A",
          "hgvs_p": "p.Glu1347Lys",
          "transcript": "ENST00000957779.1",
          "protein_id": "ENSP00000627838.1",
          "transcript_support_level": null,
          "aa_start": 1347,
          "aa_end": null,
          "aa_length": 1441,
          "cds_start": 4039,
          "cds_end": null,
          "cds_length": 4326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957779.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.3892G>A",
          "hgvs_p": "p.Glu1298Lys",
          "transcript": "ENST00000957780.1",
          "protein_id": "ENSP00000627839.1",
          "transcript_support_level": null,
          "aa_start": 1298,
          "aa_end": null,
          "aa_length": 1392,
          "cds_start": 3892,
          "cds_end": null,
          "cds_length": 4179,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957780.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.3862G>A",
          "hgvs_p": "p.Glu1288Lys",
          "transcript": "ENST00000912040.1",
          "protein_id": "ENSP00000582099.1",
          "transcript_support_level": null,
          "aa_start": 1288,
          "aa_end": null,
          "aa_length": 1382,
          "cds_start": 3862,
          "cds_end": null,
          "cds_length": 4149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912040.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.3796G>A",
          "hgvs_p": "p.Glu1266Lys",
          "transcript": "NM_001372069.1",
          "protein_id": "NP_001358998.1",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3796,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001372069.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.3796G>A",
          "hgvs_p": "p.Glu1266Lys",
          "transcript": "NM_001372070.1",
          "protein_id": "NP_001358999.1",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3796,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001372070.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.175G>A",
          "hgvs_p": "p.Glu59Lys",
          "transcript": "ENST00000691025.1",
          "protein_id": "ENSP00000509988.1",
          "transcript_support_level": null,
          "aa_start": 59,
          "aa_end": null,
          "aa_length": 182,
          "cds_start": 175,
          "cds_end": null,
          "cds_length": 549,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000691025.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.175G>A",
          "hgvs_p": "p.Glu59Lys",
          "transcript": "ENST00000686368.1",
          "protein_id": "ENSP00000509165.1",
          "transcript_support_level": null,
          "aa_start": 59,
          "aa_end": null,
          "aa_length": 136,
          "cds_start": 175,
          "cds_end": null,
          "cds_length": 411,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686368.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NCAPD3",
          "gene_hgnc_id": 28952,
          "hgvs_c": "c.175G>A",
          "hgvs_p": "p.Glu59Lys",
          "transcript": "ENST00000526787.3",
          "protein_id": "ENSP00000509095.1",
          "transcript_support_level": 3,
          "aa_start": 59,
          "aa_end": null,
          "aa_length": 121,
          "cds_start": 175,
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      "acmg_classification": "Likely_benign",
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      "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
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  "message": null
}