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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: 6-29945290-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29945290&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 29945290,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000376809.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1093+9T>C",
          "hgvs_p": null,
          "transcript": "NM_002116.8",
          "protein_id": "NP_002107.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1535,
          "mane_select": "ENST00000376809.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1093+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000376809.10",
          "protein_id": "ENSP00000366005.5",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1535,
          "mane_select": "NM_002116.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1102T>C",
          "hgvs_p": "p.Leu368Leu",
          "transcript": "ENST00000706894.1",
          "protein_id": "ENSP00000516610.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 1102,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 1378,
          "cdna_end": null,
          "cdna_length": 1841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.2642T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706892.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.1922T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706895.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2422,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLR1HASP",
          "gene_hgnc_id": null,
          "hgvs_c": "n.590A>G",
          "hgvs_p": null,
          "transcript": "ENST00000849693.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1252,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124901298",
          "gene_hgnc_id": null,
          "hgvs_c": "n.304A>G",
          "hgvs_p": null,
          "transcript": "XR_007059541.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1171,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1111+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000376806.9",
          "protein_id": "ENSP00000366002.5",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1111+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706898.1",
          "protein_id": "ENSP00000516611.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1785,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1093+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706904.1",
          "protein_id": "ENSP00000516615.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 366,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1101,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1093+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000396634.5",
          "protein_id": "ENSP00000379873.1",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1868,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1093+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706901.1",
          "protein_id": "ENSP00000516612.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1093+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706905.1",
          "protein_id": "ENSP00000516616.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.1009+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706900.1",
          "protein_id": "ENSP00000516617.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 337,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1014,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1472,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.985+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000714446.1",
          "protein_id": "ENSP00000519715.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": -4,
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          "cds_length": 990,
          "cdna_start": null,
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          "cdna_length": 1431,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.976+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000638375.2",
          "protein_id": "ENSP00000492789.2",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 326,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 981,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.896-161T>C",
          "hgvs_p": null,
          "transcript": "ENST00000376802.2",
          "protein_id": "ENSP00000365998.2",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 299,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 900,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.1332+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000495183.5",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 1766,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.1352+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000496081.5",
          "protein_id": null,
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.*77+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706893.1",
          "protein_id": "ENSP00000516609.1",
          "transcript_support_level": null,
          "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": 1696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.2389+9T>C",
          "hgvs_p": null,
          "transcript": "ENST00000706896.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
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      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.92,
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      "phylop100way_score": -0.392,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "benign_score": 12,
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          "verdict": "Benign",
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        {
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          "verdict": "Benign",
          "transcript": "ENST00000849693.1",
          "gene_symbol": "POLR1HASP",
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          "effects": [
            "non_coding_transcript_exon_variant"
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          "inheritance_mode": "",
          "hgvs_c": "n.590A>G",
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        {
          "score": -12,
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          "verdict": "Benign",
          "transcript": "XR_007059541.1",
          "gene_symbol": "LOC124901298",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.304A>G",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}