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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: 2-27364466-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27364466&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 27364466,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001318965.2",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1506G>T",
          "hgvs_p": "p.Thr502Thr",
          "transcript": "NM_001034116.2",
          "protein_id": "NP_001029288.1",
          "transcript_support_level": null,
          "aa_start": 502,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 1506,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000347454.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001034116.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1506G>T",
          "hgvs_p": "p.Thr502Thr",
          "transcript": "ENST00000347454.9",
          "protein_id": "ENSP00000233552.6",
          "transcript_support_level": 1,
          "aa_start": 502,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 1506,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001034116.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000347454.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1566G>T",
          "hgvs_p": "p.Thr522Thr",
          "transcript": "ENST00000451130.6",
          "protein_id": "ENSP00000394869.2",
          "transcript_support_level": 1,
          "aa_start": 522,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 1566,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000451130.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1503G>T",
          "hgvs_p": "p.Thr501Thr",
          "transcript": "ENST00000445933.6",
          "protein_id": "ENSP00000394397.2",
          "transcript_support_level": 1,
          "aa_start": 501,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1503,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000445933.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "n.*772G>T",
          "hgvs_p": null,
          "transcript": "ENST00000405940.6",
          "protein_id": "ENSP00000384375.2",
          "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": "ENST00000405940.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "n.*772G>T",
          "hgvs_p": null,
          "transcript": "ENST00000405940.6",
          "protein_id": "ENSP00000384375.2",
          "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": "ENST00000405940.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1587G>T",
          "hgvs_p": "p.Thr529Thr",
          "transcript": "ENST00000945158.1",
          "protein_id": "ENSP00000615217.1",
          "transcript_support_level": null,
          "aa_start": 529,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1587,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945158.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1569G>T",
          "hgvs_p": "p.Thr523Thr",
          "transcript": "NM_001318965.2",
          "protein_id": "NP_001305894.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 1569,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318965.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1569G>T",
          "hgvs_p": "p.Thr523Thr",
          "transcript": "ENST00000493344.6",
          "protein_id": "ENSP00000429323.1",
          "transcript_support_level": 5,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 1569,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000493344.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1566G>T",
          "hgvs_p": "p.Thr522Thr",
          "transcript": "NM_172195.4",
          "protein_id": "NP_751945.2",
          "transcript_support_level": null,
          "aa_start": 522,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 1566,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_172195.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1542G>T",
          "hgvs_p": "p.Thr514Thr",
          "transcript": "ENST00000920939.1",
          "protein_id": "ENSP00000590998.1",
          "transcript_support_level": null,
          "aa_start": 514,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1542,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920939.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1527G>T",
          "hgvs_p": "p.Thr509Thr",
          "transcript": "ENST00000945157.1",
          "protein_id": "ENSP00000615216.1",
          "transcript_support_level": null,
          "aa_start": 509,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 1527,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945157.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1524G>T",
          "hgvs_p": "p.Thr508Thr",
          "transcript": "ENST00000945155.1",
          "protein_id": "ENSP00000615214.1",
          "transcript_support_level": null,
          "aa_start": 508,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 1524,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945155.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1503G>T",
          "hgvs_p": "p.Thr501Thr",
          "transcript": "NM_015636.4",
          "protein_id": "NP_056451.3",
          "transcript_support_level": null,
          "aa_start": 501,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1503,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015636.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1503G>T",
          "hgvs_p": "p.Thr501Thr",
          "transcript": "ENST00000920928.1",
          "protein_id": "ENSP00000590987.1",
          "transcript_support_level": null,
          "aa_start": 501,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1503,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920928.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1503G>T",
          "hgvs_p": "p.Thr501Thr",
          "transcript": "ENST00000920929.1",
          "protein_id": "ENSP00000590988.1",
          "transcript_support_level": null,
          "aa_start": 501,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1503,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920929.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1500G>T",
          "hgvs_p": "p.Thr500Thr",
          "transcript": "ENST00000920931.1",
          "protein_id": "ENSP00000590990.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1500,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920931.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1500G>T",
          "hgvs_p": "p.Thr500Thr",
          "transcript": "ENST00000945153.1",
          "protein_id": "ENSP00000615212.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1500,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945153.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1461G>T",
          "hgvs_p": "p.Thr487Thr",
          "transcript": "NM_001318966.2",
          "protein_id": "NP_001305895.1",
          "transcript_support_level": null,
          "aa_start": 487,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 1461,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318966.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EIF2B4",
          "gene_hgnc_id": 3260,
          "hgvs_c": "c.1458G>T",
          "hgvs_p": "p.Thr486Thr",
          "transcript": "ENST00000945152.1",
          "protein_id": "ENSP00000615211.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1458,
          "cds_end": null,
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      "computational_source_selected": "BayesDel_noAF",
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      "bayesdelnoaf_score": -0.57,
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      "phylop100way_prediction": "Benign",
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      "acmg_classification": "Likely_benign",
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            "BP4_Strong"
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          "verdict": "Likely_benign",
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          "gene_symbol": "GTF3C2-AS2",
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          "effects": [
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          "inheritance_mode": "",
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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
}