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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: 9-27157926-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27157926&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 27157926,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_000459.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "NM_000459.5",
          "protein_id": "NP_000450.3",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1124,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3375,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000380036.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000459.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000380036.10",
          "protein_id": "ENSP00000369375.4",
          "transcript_support_level": 1,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1124,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3375,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000459.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380036.10"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.53-11569C>T",
          "hgvs_p": null,
          "transcript": "ENST00000519080.1",
          "protein_id": "ENSP00000428337.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000519080.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000923267.1",
          "protein_id": "ENSP00000593326.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1137,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3414,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923267.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "NM_001375475.1",
          "protein_id": "NP_001362404.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1123,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3372,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375475.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856712.1",
          "protein_id": "ENSP00000526771.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1123,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3372,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856712.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000944998.1",
          "protein_id": "ENSP00000615057.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1122,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3369,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944998.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856727.1",
          "protein_id": "ENSP00000526786.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1119,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3360,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856727.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856720.1",
          "protein_id": "ENSP00000526779.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856720.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000944996.1",
          "protein_id": "ENSP00000615055.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1087,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3264,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944996.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "NM_001290077.2",
          "protein_id": "NP_001277006.2",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290077.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000406359.8",
          "protein_id": "ENSP00000383977.4",
          "transcript_support_level": 2,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406359.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000944990.1",
          "protein_id": "ENSP00000615049.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944990.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "NM_001375476.1",
          "protein_id": "NP_001362405.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1080,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3243,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375476.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856713.1",
          "protein_id": "ENSP00000526772.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1080,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3243,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856713.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856716.1",
          "protein_id": "ENSP00000526775.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1080,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3243,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000856716.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856717.1",
          "protein_id": "ENSP00000526776.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000944997.1",
          "protein_id": "ENSP00000615056.1",
          "transcript_support_level": null,
          "aa_start": 50,
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          "aa_length": 1078,
          "cds_start": 148,
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          "cds_length": 3237,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000944997.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856715.1",
          "protein_id": "ENSP00000526774.1",
          "transcript_support_level": null,
          "aa_start": 50,
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          "aa_length": 1077,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856715.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TEK",
          "gene_hgnc_id": 11724,
          "hgvs_c": "c.148C>T",
          "hgvs_p": "p.Arg50Cys",
          "transcript": "ENST00000856723.1",
          "protein_id": "ENSP00000526782.1",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 1073,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 3222,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856723.1"
        },
        {
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