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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: 4-113367651-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113367651&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 113367651,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000357077.9",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11118C>T",
          "hgvs_p": "p.Cys3706Cys",
          "transcript": "NM_001148.6",
          "protein_id": "NP_001139.3",
          "transcript_support_level": null,
          "aa_start": 3706,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 11118,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": 11194,
          "cdna_end": null,
          "cdna_length": 14215,
          "mane_select": "ENST00000357077.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11118C>T",
          "hgvs_p": "p.Cys3706Cys",
          "transcript": "ENST00000357077.9",
          "protein_id": "ENSP00000349588.4",
          "transcript_support_level": 1,
          "aa_start": 3706,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 11118,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": 11194,
          "cdna_end": null,
          "cdna_length": 14215,
          "mane_select": "NM_001148.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11259C>T",
          "hgvs_p": "p.Cys3753Cys",
          "transcript": "ENST00000506344.6",
          "protein_id": "ENSP00000422888.2",
          "transcript_support_level": 1,
          "aa_start": 3753,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 11259,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": 11509,
          "cdna_end": null,
          "cdna_length": 14898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.4863C>T",
          "hgvs_p": "p.Cys1621Cys",
          "transcript": "ENST00000394537.7",
          "protein_id": "ENSP00000378044.3",
          "transcript_support_level": 1,
          "aa_start": 1621,
          "aa_end": null,
          "aa_length": 1872,
          "cds_start": 4863,
          "cds_end": null,
          "cds_length": 5619,
          "cdna_start": 4916,
          "cdna_end": null,
          "cdna_length": 6313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.4836C>T",
          "hgvs_p": "p.Cys1612Cys",
          "transcript": "ENST00000506722.5",
          "protein_id": "ENSP00000421067.1",
          "transcript_support_level": 1,
          "aa_start": 1612,
          "aa_end": null,
          "aa_length": 1863,
          "cds_start": 4836,
          "cds_end": null,
          "cds_length": 5592,
          "cdna_start": 5031,
          "cdna_end": null,
          "cdna_length": 8051,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.1866C>T",
          "hgvs_p": "p.Cys622Cys",
          "transcript": "ENST00000514960.5",
          "protein_id": "ENSP00000422853.1",
          "transcript_support_level": 1,
          "aa_start": 622,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": 1866,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": 1867,
          "cdna_end": null,
          "cdna_length": 5160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.1545C>T",
          "hgvs_p": "p.Cys515Cys",
          "transcript": "ENST00000510275.8",
          "protein_id": "ENSP00000421023.4",
          "transcript_support_level": 1,
          "aa_start": 515,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1545,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 1545,
          "cdna_end": null,
          "cdna_length": 4305,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11259C>T",
          "hgvs_p": "p.Cys3753Cys",
          "transcript": "NM_001386174.1",
          "protein_id": "NP_001373103.1",
          "transcript_support_level": null,
          "aa_start": 3753,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 11259,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": 11509,
          "cdna_end": null,
          "cdna_length": 14898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11235C>T",
          "hgvs_p": "p.Cys3745Cys",
          "transcript": "NM_001386175.1",
          "protein_id": "NP_001373104.1",
          "transcript_support_level": null,
          "aa_start": 3745,
          "aa_end": null,
          "aa_length": 4175,
          "cds_start": 11235,
          "cds_end": null,
          "cds_length": 12528,
          "cdna_start": 11485,
          "cdna_end": null,
          "cdna_length": 14874,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.10956C>T",
          "hgvs_p": "p.Cys3652Cys",
          "transcript": "ENST00000672209.1",
          "protein_id": "ENSP00000499982.1",
          "transcript_support_level": null,
          "aa_start": 3652,
          "aa_end": null,
          "aa_length": 3995,
          "cds_start": 10956,
          "cds_end": null,
          "cds_length": 11988,
          "cdna_start": 11155,
          "cdna_end": null,
          "cdna_length": 14932,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11199C>T",
          "hgvs_p": "p.Cys3733Cys",
          "transcript": "ENST00000672240.1",
          "protein_id": "ENSP00000500548.1",
          "transcript_support_level": null,
          "aa_start": 3733,
          "aa_end": null,
          "aa_length": 3984,
          "cds_start": 11199,
          "cds_end": null,
          "cds_length": 11955,
          "cdna_start": 11792,
          "cdna_end": null,
          "cdna_length": 15298,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11163C>T",
          "hgvs_p": "p.Cys3721Cys",
          "transcript": "ENST00000671971.1",
          "protein_id": "ENSP00000499832.1",
          "transcript_support_level": null,
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          "aa_length": 3972,
          "cds_start": 11163,
          "cds_end": null,
          "cds_length": 11919,
          "cdna_start": 11756,
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          "cdna_length": 15262,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
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          "exon_count": 47,
          "intron_rank": null,
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          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.10956C>T",
          "hgvs_p": "p.Cys3652Cys",
          "transcript": "ENST00000673298.1",
          "protein_id": "ENSP00000500245.1",
          "transcript_support_level": null,
          "aa_start": 3652,
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          "aa_length": 3964,
          "cds_start": 10956,
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        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.10956C>T",
          "hgvs_p": "p.Cys3652Cys",
          "transcript": "ENST00000503423.6",
          "protein_id": "ENSP00000421011.2",
          "transcript_support_level": 5,
          "aa_start": 3652,
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          "aa_length": 3961,
          "cds_start": 10956,
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          "cdna_start": 11155,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
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          ],
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          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.10884C>T",
          "hgvs_p": "p.Cys3628Cys",
          "transcript": "NM_001386142.1",
          "protein_id": "NP_001373071.1",
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          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11064C>T",
          "hgvs_p": "p.Cys3688Cys",
          "transcript": "ENST00000673363.1",
          "protein_id": "ENSP00000500539.1",
          "transcript_support_level": null,
          "aa_start": 3688,
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          "cds_start": 11064,
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          "cds_length": 11820,
          "cdna_start": 11657,
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          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11055C>T",
          "hgvs_p": "p.Cys3685Cys",
          "transcript": "ENST00000672830.1",
          "protein_id": "ENSP00000500222.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 11055,
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          "cds_length": 11811,
          "cdna_start": 11265,
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          "cdna_length": 14771,
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          "biotype": null,
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        },
        {
          "aa_ref": "C",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.10956C>T",
          "hgvs_p": "p.Cys3652Cys",
          "transcript": "ENST00000672068.1",
          "protein_id": "ENSP00000499902.1",
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        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 41,
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          "exon_count": 45,
          "intron_rank": null,
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          "gene_symbol": "ANK2",
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          "hgvs_c": "c.11019C>T",
          "hgvs_p": "p.Cys3673Cys",
          "transcript": "ENST00000264366.10",
          "protein_id": "ENSP00000264366.6",
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11019C>T",
          "hgvs_p": "p.Cys3673Cys",
          "transcript": "ENST00000672502.1",
          "protein_id": "ENSP00000499870.1",
          "transcript_support_level": null,
          "aa_start": 3673,
          "aa_end": null,
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          "cds_end": null,
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          "cdna_start": 11226,
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          "cdna_length": 14732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 47,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.77,
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      "phylop100way_score": -1.263,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -17,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
      "acmg_by_gene": [
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            "BS2"
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          "verdict": "Benign",
          "transcript": "ENST00000357077.9",
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      "clinvar_disease": "Cardiovascular phenotype,Long QT syndrome",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Long QT syndrome|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}