← 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: 5-80143701-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80143701&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80143701,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001174072.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"transcript": "NM_001174072.3",
"protein_id": "NP_001167543.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 461,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000507668.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174072.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"transcript": "ENST00000507668.7",
"protein_id": "ENSP00000426237.3",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 461,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001174072.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507668.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1238+2389G>A",
"hgvs_p": null,
"transcript": "ENST00000509193.6",
"protein_id": "ENSP00000426134.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509193.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Ala448Thr",
"transcript": "ENST00000867105.1",
"protein_id": "ENSP00000537164.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 459,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867105.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"transcript": "ENST00000867106.1",
"protein_id": "ENSP00000537165.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 389,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867106.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"transcript": "XM_047417080.1",
"protein_id": "XP_047273036.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 424,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417080.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1365G>A",
"hgvs_p": "p.Ser455Ser",
"transcript": "XM_011543304.2",
"protein_id": "XP_011541606.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 543,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543304.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1254G>A",
"hgvs_p": "p.Ser418Ser",
"transcript": "XM_047417079.1",
"protein_id": "XP_047273035.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 506,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417079.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1238+2389G>A",
"hgvs_p": null,
"transcript": "NM_178276.7",
"protein_id": "NP_840060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178276.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "c.1238+2389G>A",
"hgvs_p": null,
"transcript": "NM_001174071.3",
"protein_id": "NP_001167542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174071.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251675",
"gene_hgnc_id": 59087,
"hgvs_c": "n.482C>T",
"hgvs_p": null,
"transcript": "ENST00000511484.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000511484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "n.1238+2389G>A",
"hgvs_p": null,
"transcript": "ENST00000512972.6",
"protein_id": "ENSP00000421665.2",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000512972.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "n.1232+2389G>A",
"hgvs_p": null,
"transcript": "ENST00000632581.1",
"protein_id": "ENSP00000488864.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000632581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "n.1358+2389G>A",
"hgvs_p": null,
"transcript": "NR_126060.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_126060.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"hgvs_c": "n.1364+2389G>A",
"hgvs_p": null,
"transcript": "NR_126061.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_126061.2"
}
],
"gene_symbol": "SERINC5",
"gene_hgnc_id": 18825,
"dbsnp": "rs537411704",
"frequency_reference_population": 0.000069007096,
"hom_count_reference_population": 1,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000433584,
"gnomad_genomes_af": 0.000302119,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5604939460754395,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1046,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.015,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001174072.3",
"gene_symbol": "SERINC5",
"hgnc_id": 18825,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000511484.1",
"gene_symbol": "ENSG00000251675",
"hgnc_id": 59087,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.482C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}