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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: 2-11660056-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11660056&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NTSR2",
"hgnc_id": 8040,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Asp326Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_012344.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.082,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28330254554748535,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 410,
"aa_ref": "D",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1233,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_012344.4",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Asp326Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306928.6",
"protein_coding": true,
"protein_id": "NP_036476.2",
"strand": false,
"transcript": "NM_012344.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 410,
"aa_ref": "D",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1233,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000306928.6",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Asp326Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012344.4",
"protein_coding": true,
"protein_id": "ENSP00000303686.5",
"strand": false,
"transcript": "ENST00000306928.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 426,
"aa_ref": "D",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1281,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950908.1",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Asp342Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620967.1",
"strand": false,
"transcript": "ENST00000950908.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 339,
"aa_ref": "M",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1593,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1020,
"cds_start": 969,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017003738.2",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Met323Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859227.1",
"strand": false,
"transcript": "XM_017003738.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "M",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 984,
"cds_end": null,
"cds_length": 969,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006711876.5",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Met306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711939.1",
"strand": false,
"transcript": "XM_006711876.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 319,
"aa_ref": "M",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 975,
"cds_end": null,
"cds_length": 960,
"cds_start": 909,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006711877.4",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.909G>A",
"hgvs_p": "p.Met303Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711940.1",
"strand": false,
"transcript": "XM_006711877.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 250,
"aa_ref": "M",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": 768,
"cds_end": null,
"cds_length": 753,
"cds_start": 702,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005246156.4",
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246213.1",
"strand": false,
"transcript": "XM_005246156.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": 0.000002052531,
"gene_hgnc_id": 8040,
"gene_symbol": "NTSR2",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205253,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.31,
"pos": 11660056,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.169,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_012344.4"
}
]
}