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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: 3-58645540-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58645540&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM3D",
"hgnc_id": 18665,
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_138805.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8141,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2869631052017212,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 469,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_138805.3",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358781.7",
"protein_coding": true,
"protein_id": "NP_620160.1",
"strand": false,
"transcript": "NM_138805.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 469,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000358781.7",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138805.3",
"protein_coding": true,
"protein_id": "ENSP00000351632.2",
"strand": false,
"transcript": "ENST00000358781.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 500,
"cds_end": null,
"cds_length": 720,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876442.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Val79Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546501.1",
"strand": false,
"transcript": "ENST00000876442.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 230,
"aa_ref": "V",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 499,
"cds_end": null,
"cds_length": 693,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876443.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.250G>C",
"hgvs_p": "p.Val84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546502.1",
"strand": false,
"transcript": "ENST00000876443.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 229,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 539,
"cds_end": null,
"cds_length": 690,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876440.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.247G>C",
"hgvs_p": "p.Val83Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546499.1",
"strand": false,
"transcript": "ENST00000876440.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 225,
"aa_ref": "V",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 527,
"cds_end": null,
"cds_length": 678,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876438.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Val79Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546497.1",
"strand": false,
"transcript": "ENST00000876438.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 225,
"aa_ref": "V",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 519,
"cds_end": null,
"cds_length": 678,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951614.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Val79Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621673.1",
"strand": false,
"transcript": "ENST00000951614.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 606,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876435.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546494.1",
"strand": false,
"transcript": "ENST00000876435.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 562,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876436.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546495.1",
"strand": false,
"transcript": "ENST00000876436.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": 686,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876444.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546503.1",
"strand": false,
"transcript": "ENST00000876444.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 558,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876446.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546505.1",
"strand": false,
"transcript": "ENST00000876446.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": 554,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951609.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621668.1",
"strand": false,
"transcript": "ENST00000951609.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 286,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951611.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621670.1",
"strand": false,
"transcript": "ENST00000951611.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 343,
"cds_end": null,
"cds_length": 675,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951613.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Val78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621672.1",
"strand": false,
"transcript": "ENST00000951613.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 223,
"aa_ref": "V",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 569,
"cds_end": null,
"cds_length": 672,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876434.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546493.1",
"strand": false,
"transcript": "ENST00000876434.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 223,
"aa_ref": "V",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 567,
"cds_end": null,
"cds_length": 672,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876437.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546496.1",
"strand": false,
"transcript": "ENST00000876437.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 223,
"aa_ref": "V",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1157,
"cdna_start": 388,
"cds_end": null,
"cds_length": 672,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876445.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546504.1",
"strand": false,
"transcript": "ENST00000876445.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 223,
"aa_ref": "V",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 337,
"cds_end": null,
"cds_length": 672,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876447.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546506.1",
"strand": false,
"transcript": "ENST00000876447.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1237,
"cdna_start": 465,
"cds_end": null,
"cds_length": 639,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951608.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.196G>C",
"hgvs_p": "p.Val66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621667.1",
"strand": false,
"transcript": "ENST00000951608.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": 479,
"cds_end": null,
"cds_length": 636,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876441.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Val65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546500.1",
"strand": false,
"transcript": "ENST00000876441.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 188,
"aa_ref": "V",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1189,
"cdna_start": 413,
"cds_end": null,
"cds_length": 567,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876439.1",
"gene_hgnc_id": 18665,
"gene_symbol": "FAM3D",
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Val42Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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