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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: 1-196949602-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196949602&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFHR2",
"hgnc_id": 4890,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_005666.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.1313,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11480435729026794,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1498,
"cdna_start": 349,
"cds_end": null,
"cds_length": 813,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_005666.4",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367415.8",
"protein_coding": true,
"protein_id": "NP_005657.1",
"strand": true,
"transcript": "NM_005666.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1498,
"cdna_start": 349,
"cds_end": null,
"cds_length": 813,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000367415.8",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005666.4",
"protein_coding": true,
"protein_id": "ENSP00000356385.4",
"strand": true,
"transcript": "ENST00000367415.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 355,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1068,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000367421.5",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356391.4",
"strand": true,
"transcript": "ENST00000367421.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 146,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": null,
"cds_end": null,
"cds_length": 441,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473386.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.58+5664G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497089.1",
"strand": true,
"transcript": "ENST00000473386.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1056,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884518.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554577.1",
"strand": true,
"transcript": "ENST00000884518.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1020,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884535.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554594.1",
"strand": true,
"transcript": "ENST00000884535.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 408,
"cds_end": null,
"cds_length": 921,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884546.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Arg109His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554605.1",
"strand": true,
"transcript": "ENST00000884546.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 411,
"cds_end": null,
"cds_length": 897,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884522.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554581.1",
"strand": true,
"transcript": "ENST00000884522.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 381,
"cds_end": null,
"cds_length": 894,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884545.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554604.1",
"strand": true,
"transcript": "ENST00000884545.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 296,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 570,
"cds_end": null,
"cds_length": 891,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884531.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554590.1",
"strand": true,
"transcript": "ENST00000884531.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 267,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": 315,
"cds_end": null,
"cds_length": 804,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884530.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554589.1",
"strand": true,
"transcript": "ENST00000884530.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 266,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5945,
"cdna_start": 315,
"cds_end": null,
"cds_length": 801,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884517.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554576.1",
"strand": true,
"transcript": "ENST00000884517.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 254,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1020,
"cdna_start": 315,
"cds_end": null,
"cds_length": 765,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000476712.6",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476677.1",
"strand": true,
"transcript": "ENST00000476712.6",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": 254,
"cds_end": null,
"cds_length": 762,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884539.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554598.1",
"strand": true,
"transcript": "ENST00000884539.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 250,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1076,
"cdna_start": 334,
"cds_end": null,
"cds_length": 753,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000489703.2",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514689.1",
"strand": true,
"transcript": "ENST00000489703.2",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 250,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 349,
"cds_end": null,
"cds_length": 753,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884523.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554582.1",
"strand": true,
"transcript": "ENST00000884523.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 249,
"aa_ref": "R",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 970,
"cdna_start": 237,
"cds_end": null,
"cds_length": 750,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884542.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554601.1",
"strand": true,
"transcript": "ENST00000884542.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 247,
"aa_ref": "R",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": 315,
"cds_end": null,
"cds_length": 744,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884529.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554588.1",
"strand": true,
"transcript": "ENST00000884529.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 245,
"aa_ref": "R",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1062,
"cdna_start": 262,
"cds_end": null,
"cds_length": 738,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884526.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.131G>A",
"hgvs_p": "p.Arg44His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554585.1",
"strand": true,
"transcript": "ENST00000884526.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 223,
"cds_end": null,
"cds_length": 729,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884525.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554584.1",
"strand": true,
"transcript": "ENST00000884525.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 408,
"cds_end": null,
"cds_length": 729,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884534.1",
"gene_hgnc_id": 4890,
"gene_symbol": "CFHR2",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554593.1",
"strand": true,
"transcript": "ENST00000884534.1",
"transcript_support_level": null
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