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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: 3-58636313-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58636313&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58636313,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138805.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "NM_138805.3",
"protein_id": "NP_620160.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358781.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138805.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000358781.7",
"protein_id": "ENSP00000351632.2",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138805.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358781.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Gly204Asp",
"transcript": "ENST00000876442.1",
"protein_id": "ENSP00000546501.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 239,
"cds_start": 611,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876442.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Gly195Asp",
"transcript": "ENST00000876443.1",
"protein_id": "ENSP00000546502.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 230,
"cds_start": 584,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876443.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Gly194Asp",
"transcript": "ENST00000876440.1",
"protein_id": "ENSP00000546499.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 229,
"cds_start": 581,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876440.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Gly190Asp",
"transcript": "ENST00000876438.1",
"protein_id": "ENSP00000546497.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 225,
"cds_start": 569,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876438.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Gly190Asp",
"transcript": "ENST00000951614.1",
"protein_id": "ENSP00000621673.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 225,
"cds_start": 569,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951614.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000876435.1",
"protein_id": "ENSP00000546494.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876435.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000876436.1",
"protein_id": "ENSP00000546495.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876436.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000876444.1",
"protein_id": "ENSP00000546503.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876444.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000876446.1",
"protein_id": "ENSP00000546505.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876446.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000951609.1",
"protein_id": "ENSP00000621668.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951609.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000951611.1",
"protein_id": "ENSP00000621670.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951611.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp",
"transcript": "ENST00000951613.1",
"protein_id": "ENSP00000621672.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 224,
"cds_start": 566,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951613.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"transcript": "ENST00000876434.1",
"protein_id": "ENSP00000546493.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 223,
"cds_start": 563,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876434.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"transcript": "ENST00000876437.1",
"protein_id": "ENSP00000546496.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 223,
"cds_start": 563,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876437.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"transcript": "ENST00000876445.1",
"protein_id": "ENSP00000546504.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 223,
"cds_start": 563,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876445.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"transcript": "ENST00000876447.1",
"protein_id": "ENSP00000546506.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 223,
"cds_start": 563,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876447.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Gly177Asp",
"transcript": "ENST00000951608.1",
"protein_id": "ENSP00000621667.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 212,
"cds_start": 530,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951608.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Gly176Asp",
"transcript": "ENST00000876441.1",
"protein_id": "ENSP00000546500.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 211,
"cds_start": 527,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876441.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Gly153Asp",
"transcript": "ENST00000876439.1",
"protein_id": "ENSP00000546498.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 188,
"cds_start": 458,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876439.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3D",
"gene_hgnc_id": 18665,
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Gly153Asp",
"transcript": "ENST00000951607.1",
"protein_id": "ENSP00000621666.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 188,
"cds_start": 458,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"hgnc_id": 18665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Gly189Asp"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649469.1",
"gene_symbol": "FAM3D-AS1",
"hgnc_id": 41276,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.511-7397C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}