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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: 16-47083462-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47083462&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 47083462,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018092.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"transcript": "NM_018092.5",
"protein_id": "NP_060562.3",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 525,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000562435.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018092.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"transcript": "ENST00000562435.6",
"protein_id": "ENSP00000455169.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 525,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018092.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562435.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Ser439Asn",
"transcript": "NM_001201477.2",
"protein_id": "NP_001188406.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 518,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201477.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Ser439Asn",
"transcript": "ENST00000303155.9",
"protein_id": "ENSP00000306726.5",
"transcript_support_level": 5,
"aa_start": 439,
"aa_end": null,
"aa_length": 518,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303155.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000878303.1",
"protein_id": "ENSP00000548362.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 510,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878303.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Ser430Asn",
"transcript": "ENST00000935729.1",
"protein_id": "ENSP00000605788.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 509,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935729.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Ser423Asn",
"transcript": "ENST00000935730.1",
"protein_id": "ENSP00000605789.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 502,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935730.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Ser405Asn",
"transcript": "ENST00000878302.1",
"protein_id": "ENSP00000548361.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 484,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878302.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Ser398Asn",
"transcript": "ENST00000878304.1",
"protein_id": "ENSP00000548363.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 477,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878304.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Ser360Asn",
"transcript": "ENST00000962554.1",
"protein_id": "ENSP00000632613.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 439,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962554.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Ser285Asn",
"transcript": "ENST00000562559.5",
"protein_id": "ENSP00000454213.1",
"transcript_support_level": 3,
"aa_start": 285,
"aa_end": null,
"aa_length": 364,
"cds_start": 854,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562559.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Ser148Asn",
"transcript": "ENST00000564667.1",
"protein_id": "ENSP00000457133.1",
"transcript_support_level": 4,
"aa_start": 148,
"aa_end": null,
"aa_length": 227,
"cds_start": 443,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564667.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Ser125Asn",
"transcript": "ENST00000935728.1",
"protein_id": "ENSP00000605787.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 204,
"cds_start": 374,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935728.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1223G>A",
"hgvs_p": "p.Ser408Asn",
"transcript": "XM_006721289.2",
"protein_id": "XP_006721352.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 487,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721289.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Ser401Asn",
"transcript": "XM_006721291.2",
"protein_id": "XP_006721354.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 480,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721291.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Ser310Asn",
"transcript": "XM_017023740.2",
"protein_id": "XP_016879229.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 389,
"cds_start": 929,
"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": "XM_017023740.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.*152G>A",
"hgvs_p": null,
"transcript": "ENST00000563078.1",
"protein_id": "ENSP00000456818.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563078.1"
}
],
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"dbsnp": "rs201675106",
"frequency_reference_population": 0.0000123901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000328291,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023952335119247437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.534,
"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_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018092.5",
"gene_symbol": "NETO2",
"hgnc_id": 14644,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn"
}
],
"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
}