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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: 9-71866908-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71866908&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 71866908,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_016014.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "NM_001025780.3",
          "protein_id": "NP_001020951.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000333421.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001025780.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000333421.7",
          "protein_id": "ENSP00000330222.6",
          "transcript_support_level": 1,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001025780.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333421.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000377041.6",
          "protein_id": "ENSP00000366240.2",
          "transcript_support_level": 1,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377041.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "NM_016014.4",
          "protein_id": "NP_057098.2",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016014.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860588.1",
          "protein_id": "ENSP00000530647.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860588.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860589.1",
          "protein_id": "ENSP00000530648.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860589.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860590.1",
          "protein_id": "ENSP00000530649.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860590.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860591.1",
          "protein_id": "ENSP00000530650.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860591.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860592.1",
          "protein_id": "ENSP00000530651.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860592.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860593.1",
          "protein_id": "ENSP00000530652.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860594.1",
          "protein_id": "ENSP00000530653.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "intron_rank": null,
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          "gene_symbol": "ABHD17B",
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          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860595.1",
          "protein_id": "ENSP00000530654.1",
          "transcript_support_level": null,
          "aa_start": 249,
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          "cds_start": 746,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "gene_symbol": "ABHD17B",
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          "hgvs_c": "c.746G>T",
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          "transcript": "ENST00000860598.1",
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          "cds_start": 746,
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          "cdna_start": null,
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000860599.1",
          "protein_id": "ENSP00000530658.1",
          "transcript_support_level": null,
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          "cds_start": 746,
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        {
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          "gene_symbol": "ABHD17B",
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          "transcript": "ENST00000860600.1",
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          "biotype": "protein_coding",
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        {
          "aa_ref": "R",
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          "protein_coding": true,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000930684.1",
          "protein_id": "ENSP00000600743.1",
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        {
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          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
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          "transcript": "ENST00000930686.1",
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        },
        {
          "aa_ref": "R",
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABHD17B",
          "gene_hgnc_id": 24278,
          "hgvs_c": "c.746G>T",
          "hgvs_p": "p.Arg249Leu",
          "transcript": "ENST00000945710.1",
          "protein_id": "ENSP00000615769.1",
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