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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: 2-135616692-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135616692&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 135616692,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001378107.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "NM_001378107.1",
          "protein_id": "NP_001365036.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000683871.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378107.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000683871.1",
          "protein_id": "ENSP00000506980.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001378107.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683871.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000264160.8",
          "protein_id": "ENSP00000264160.4",
          "transcript_support_level": 1,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1099,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3300,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000264160.8"
        },
        {
          "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": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.172-4802C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409478.5",
          "protein_id": "ENSP00000386457.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 971,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2916,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409478.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "NM_001282798.2",
          "protein_id": "NP_001269727.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282798.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "NM_001354200.2",
          "protein_id": "NP_001341129.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354200.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000409606.5",
          "protein_id": "ENSP00000387010.1",
          "transcript_support_level": 2,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409606.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000964911.1",
          "protein_id": "ENSP00000634970.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964911.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "NM_001354199.2",
          "protein_id": "NP_001341128.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1099,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3300,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354199.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "NM_015361.4",
          "protein_id": "NP_056176.2",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1099,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3300,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015361.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000869759.1",
          "protein_id": "ENSP00000539818.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1083,
          "cds_start": 238,
          "cds_end": null,
          "cds_length": 3252,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869759.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000869757.1",
          "protein_id": "ENSP00000539816.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 1037,
          "cds_start": 238,
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          "cds_length": 3114,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000869757.1"
        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000940058.1",
          "protein_id": "ENSP00000610117.1",
          "transcript_support_level": null,
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          "cds_start": 238,
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          "cds_length": 3048,
          "cdna_start": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940058.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.196C>A",
          "hgvs_p": "p.Arg66Arg",
          "transcript": "ENST00000940064.1",
          "protein_id": "ENSP00000610123.1",
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          "aa_start": 66,
          "aa_end": null,
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          "cds_start": 196,
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.238C>A",
          "hgvs_p": "p.Arg80Arg",
          "transcript": "ENST00000869756.1",
          "protein_id": "ENSP00000539815.1",
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          "aa_length": 999,
          "cds_start": 238,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.184C>A",
          "hgvs_p": "p.Arg62Arg",
          "transcript": "ENST00000456040.1",
          "protein_id": "ENSP00000405668.1",
          "transcript_support_level": 5,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 184,
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        {
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          "canonical": false,
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          ],
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          "exon_count": 25,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.172-4802C>A",
          "hgvs_p": null,
          "transcript": "ENST00000940062.1",
          "protein_id": "ENSP00000610121.1",
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        {
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          "intron_rank": 3,
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          "gene_symbol": "R3HDM1",
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          "hgvs_c": "c.172-4802C>A",
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        {
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          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
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          "transcript": "ENST00000940059.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000940059.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "R3HDM1",
          "gene_hgnc_id": 9757,
          "hgvs_c": "c.136-4802C>A",
          "hgvs_p": null,
          "transcript": "NM_001282800.2",
          "protein_id": "NP_001269729.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001282800.2"
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}