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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: 12-57472038-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57472038&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 57472038,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_005269.3",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3298G>C",
          "hgvs_p": "p.Glu1100Gln",
          "transcript": "NM_005269.3",
          "protein_id": "NP_005260.1",
          "transcript_support_level": null,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1106,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 3321,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000228682.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005269.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3298G>C",
          "hgvs_p": "p.Glu1100Gln",
          "transcript": "ENST00000228682.7",
          "protein_id": "ENSP00000228682.2",
          "transcript_support_level": 1,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1106,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 3321,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005269.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000228682.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3175G>C",
          "hgvs_p": "p.Glu1059Gln",
          "transcript": "ENST00000528467.1",
          "protein_id": "ENSP00000434408.1",
          "transcript_support_level": 1,
          "aa_start": 1059,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 3175,
          "cds_end": null,
          "cds_length": 3196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000528467.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3175G>C",
          "hgvs_p": "p.Glu1059Gln",
          "transcript": "NM_001167609.2",
          "protein_id": "NP_001161081.1",
          "transcript_support_level": null,
          "aa_start": 1059,
          "aa_end": null,
          "aa_length": 1065,
          "cds_start": 3175,
          "cds_end": null,
          "cds_length": 3198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001167609.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3175G>C",
          "hgvs_p": "p.Glu1059Gln",
          "transcript": "ENST00000546141.5",
          "protein_id": "ENSP00000441006.1",
          "transcript_support_level": 5,
          "aa_start": 1059,
          "aa_end": null,
          "aa_length": 1065,
          "cds_start": 3175,
          "cds_end": null,
          "cds_length": 3198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000546141.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3067G>C",
          "hgvs_p": "p.Glu1023Gln",
          "transcript": "ENST00000907055.1",
          "protein_id": "ENSP00000577114.1",
          "transcript_support_level": null,
          "aa_start": 1023,
          "aa_end": null,
          "aa_length": 1029,
          "cds_start": 3067,
          "cds_end": null,
          "cds_length": 3090,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907055.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.2914G>C",
          "hgvs_p": "p.Glu972Gln",
          "transcript": "NM_001160045.2",
          "protein_id": "NP_001153517.1",
          "transcript_support_level": null,
          "aa_start": 972,
          "aa_end": null,
          "aa_length": 978,
          "cds_start": 2914,
          "cds_end": null,
          "cds_length": 2937,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160045.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.2914G>C",
          "hgvs_p": "p.Glu972Gln",
          "transcript": "ENST00000543426.5",
          "protein_id": "ENSP00000437607.1",
          "transcript_support_level": 5,
          "aa_start": 972,
          "aa_end": null,
          "aa_length": 978,
          "cds_start": 2914,
          "cds_end": null,
          "cds_length": 2937,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000543426.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3298G>C",
          "hgvs_p": "p.Glu1100Gln",
          "transcript": "XM_011538189.3",
          "protein_id": "XP_011536491.1",
          "transcript_support_level": null,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1106,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 3321,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011538189.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLI1",
          "gene_hgnc_id": 4317,
          "hgvs_c": "c.3067G>C",
          "hgvs_p": "p.Glu1023Gln",
          "transcript": "XM_011538190.3",
          "protein_id": "XP_011536492.1",
          "transcript_support_level": null,
          "aa_start": 1023,
          "aa_end": null,
          "aa_length": 1029,
          "cds_start": 3067,
          "cds_end": null,
          "cds_length": 3090,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011538190.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "NM_032496.4",
          "protein_id": "NP_115885.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000393791.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032496.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000393791.8",
          "protein_id": "ENSP00000377380.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032496.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393791.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000393797.7",
          "protein_id": "ENSP00000377386.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393797.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000430041.6",
          "protein_id": "ENSP00000397950.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000430041.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "NM_001319850.2",
          "protein_id": "NP_001306779.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319850.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000906774.1",
          "protein_id": "ENSP00000576833.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000906774.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000906773.1",
          "protein_id": "ENSP00000576832.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": null,
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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": null,
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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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000906775.1",
          "protein_id": "ENSP00000576834.1",
          "transcript_support_level": null,
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          "aa_length": 731,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906775.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000948684.1",
          "protein_id": "ENSP00000618743.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 731,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948684.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP9",
          "gene_hgnc_id": 14130,
          "hgvs_c": "c.*479C>G",
          "hgvs_p": null,
          "transcript": "ENST00000906772.1",
          "protein_id": "ENSP00000576831.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906772.1"
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      "spliceai_max_score": 0,
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      "acmg_classification": "Benign",
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          "transcript": "NM_001319850.2",
          "gene_symbol": "ARHGAP9",
          "hgnc_id": 14130,
          "effects": [
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      "clinvar_disease": " postaxial, type A8,Polydactyly,Polydactyly of a biphalangeal thumb,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:3",
      "phenotype_combined": "Polydactyly, postaxial, type A8|Polydactyly of a biphalangeal thumb|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.