← Back to variant description
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: 16-20318312-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20318312&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20318312,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001007240.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Met",
"transcript": "NM_001502.4",
"protein_id": "NP_001493.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 534,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302555.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001502.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Met",
"transcript": "ENST00000302555.10",
"protein_id": "ENSP00000304044.6",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 534,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001502.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302555.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Val379Met",
"transcript": "ENST00000381362.8",
"protein_id": "ENSP00000370767.4",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 537,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381362.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "ENST00000381360.9",
"protein_id": "ENSP00000370765.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 390,
"cds_start": 694,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381360.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Val229Met",
"transcript": "ENST00000341642.9",
"protein_id": "ENSP00000343861.5",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 387,
"cds_start": 685,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341642.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Val379Met",
"transcript": "NM_001007240.3",
"protein_id": "NP_001007241.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 537,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007240.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Met",
"transcript": "ENST00000888890.1",
"protein_id": "ENSP00000558949.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 534,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888890.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Met",
"transcript": "ENST00000888891.1",
"protein_id": "ENSP00000558950.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 534,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888891.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "NM_001007241.3",
"protein_id": "NP_001007242.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 390,
"cds_start": 694,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007241.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Val229Met",
"transcript": "NM_001007242.3",
"protein_id": "NP_001007243.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 387,
"cds_start": 685,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007242.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Val229Met",
"transcript": "ENST00000888892.1",
"protein_id": "ENSP00000558951.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 387,
"cds_start": 685,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888892.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "n.*90G>A",
"hgvs_p": null,
"transcript": "ENST00000573897.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573897.5"
}
],
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"dbsnp": "rs147573034",
"frequency_reference_population": 0.000045235916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000294203,
"gnomad_genomes_af": 0.000197127,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07545563578605652,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.0611,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.685,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001007240.3",
"gene_symbol": "GP2",
"hgnc_id": 4441,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Val379Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}