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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: 2-131082623-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=131082623&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM168B",
"hgnc_id": 27016,
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001009993.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 282,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001009993.4",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389915.4",
"protein_coding": true,
"protein_id": "NP_001009993.2",
"strand": false,
"transcript": "NM_001009993.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 282,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389915.4",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009993.4",
"protein_coding": true,
"protein_id": "ENSP00000374565.3",
"strand": false,
"transcript": "ENST00000389915.4",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5285,
"cdna_start": 132,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409185.5",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387051.1",
"strand": false,
"transcript": "ENST00000409185.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": 731,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321743.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308672.1",
"strand": false,
"transcript": "NM_001321743.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5590,
"cdna_start": 437,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321744.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308673.1",
"strand": false,
"transcript": "NM_001321744.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": 185,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321745.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308674.1",
"strand": false,
"transcript": "NM_001321745.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5317,
"cdna_start": 164,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321746.2",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308675.1",
"strand": false,
"transcript": "NM_001321746.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 184,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321747.2",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308676.1",
"strand": false,
"transcript": "NM_001321747.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5411,
"cdna_start": 258,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321748.2",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308677.1",
"strand": false,
"transcript": "NM_001321748.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5617,
"cdna_start": 464,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894388.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564447.1",
"strand": false,
"transcript": "ENST00000894388.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5365,
"cdna_start": 212,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894389.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564448.1",
"strand": false,
"transcript": "ENST00000894389.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5512,
"cdna_start": 359,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894390.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564449.1",
"strand": false,
"transcript": "ENST00000894390.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": 731,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894391.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564450.1",
"strand": false,
"transcript": "ENST00000894391.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5489,
"cdna_start": 336,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894392.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564451.1",
"strand": false,
"transcript": "ENST00000894392.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5588,
"cdna_start": 435,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894393.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564452.1",
"strand": false,
"transcript": "ENST00000894393.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": 182,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894396.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564455.1",
"strand": false,
"transcript": "ENST00000894396.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5754,
"cdna_start": 601,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894397.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564456.1",
"strand": false,
"transcript": "ENST00000894397.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5412,
"cdna_start": 260,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894398.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564457.1",
"strand": false,
"transcript": "ENST00000894398.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5505,
"cdna_start": 352,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894399.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564458.1",
"strand": false,
"transcript": "ENST00000894399.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5832,
"cdna_start": 241,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894400.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564459.1",
"strand": false,
"transcript": "ENST00000894400.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5687,
"cdna_start": 535,
"cds_end": null,
"cds_length": 588,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894401.1",
"gene_hgnc_id": 27016,
"gene_symbol": "FAM168B",
"hgvs_c": "c.23_24delGAinsAG",
"hgvs_p": "p.Gly8Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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