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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: 19-49556709-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49556709&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOSIP",
"hgnc_id": 17946,
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001363649.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.2802,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4259292185306549,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": 608,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001270960.2",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000596358.6",
"protein_coding": true,
"protein_id": "NP_001257889.1",
"strand": false,
"transcript": "NM_001270960.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": 608,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000596358.6",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001270960.2",
"protein_coding": true,
"protein_id": "ENSP00000470034.1",
"strand": false,
"transcript": "ENST00000596358.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 310,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": 622,
"cds_end": null,
"cds_length": 933,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874168.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544227.1",
"strand": false,
"transcript": "ENST00000874168.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 736,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363649.3",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350578.1",
"strand": false,
"transcript": "NM_001363649.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 617,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439222.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426151.1",
"strand": false,
"transcript": "NM_001439222.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439223.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426152.1",
"strand": false,
"transcript": "NM_001439223.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 619,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000339093.7",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343497.3",
"strand": false,
"transcript": "ENST00000339093.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 856,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874162.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544221.1",
"strand": false,
"transcript": "ENST00000874162.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1136,
"cdna_start": 757,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874167.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544226.1",
"strand": false,
"transcript": "ENST00000874167.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 750,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874171.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544230.1",
"strand": false,
"transcript": "ENST00000874171.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 715,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874172.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544231.1",
"strand": false,
"transcript": "ENST00000874172.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 662,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917074.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587133.1",
"strand": false,
"transcript": "ENST00000917074.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 642,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917075.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587134.1",
"strand": false,
"transcript": "ENST00000917075.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1136,
"cdna_start": 755,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000917076.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587135.1",
"strand": false,
"transcript": "ENST00000917076.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 867,
"cds_end": null,
"cds_length": 915,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000917077.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.574G>C",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587136.1",
"strand": false,
"transcript": "ENST00000917077.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439224.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426153.1",
"strand": false,
"transcript": "NM_001439224.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": 727,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_015953.6",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057037.1",
"strand": false,
"transcript": "NM_015953.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": 657,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874163.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544222.1",
"strand": false,
"transcript": "ENST00000874163.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 763,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874164.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544223.1",
"strand": false,
"transcript": "ENST00000874164.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 748,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874165.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544224.1",
"strand": false,
"transcript": "ENST00000874165.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 763,
"cds_end": null,
"cds_length": 906,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874166.1",
"gene_hgnc_id": 17946,
"gene_symbol": "NOSIP",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544225.1",
"strand": false,
"transcript": "ENST00000874166.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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