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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: 16-10180048-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10180048&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10180048,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000330684.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "NM_001134407.3",
"protein_id": "NP_001127879.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1464,
"cds_start": 364,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 14706,
"mane_select": "ENST00000330684.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "ENST00000330684.4",
"protein_id": "ENSP00000332549.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 1464,
"cds_start": 364,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 14706,
"mane_select": "NM_001134407.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "ENST00000396573.6",
"protein_id": "ENSP00000379818.2",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 1464,
"cds_start": 364,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 14450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "ENST00000562109.5",
"protein_id": "ENSP00000454998.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 1281,
"cds_start": 364,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 4338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "n.765G>T",
"hgvs_p": null,
"transcript": "ENST00000566665.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "NM_000833.5",
"protein_id": "NP_000824.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1464,
"cds_start": 364,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 14600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "NM_001134408.2",
"protein_id": "NP_001127880.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1281,
"cds_start": 364,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 14006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "ENST00000675398.2",
"protein_id": "ENSP00000502752.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 796,
"cds_start": 364,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Val174Phe",
"transcript": "XM_017023172.2",
"protein_id": "XP_016878661.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1516,
"cds_start": 520,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 14347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "XM_047433993.1",
"protein_id": "XP_047289949.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1464,
"cds_start": 364,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 14259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Val174Phe",
"transcript": "XM_017023173.2",
"protein_id": "XP_016878662.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1333,
"cds_start": 520,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 14007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe",
"transcript": "XM_047433994.1",
"protein_id": "XP_047289950.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1281,
"cds_start": 364,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 13940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "n.43G>T",
"hgvs_p": null,
"transcript": "ENST00000637334.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "n.848G>T",
"hgvs_p": null,
"transcript": "ENST00000675189.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "n.797G>T",
"hgvs_p": null,
"transcript": "ENST00000676032.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"hgvs_c": "c.-45G>T",
"hgvs_p": null,
"transcript": "ENST00000637393.1",
"protein_id": "ENSP00000490232.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIN2A",
"gene_hgnc_id": 4585,
"dbsnp": "rs376125239",
"frequency_reference_population": 0.0000020523823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205238,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6940250396728516,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.568,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4482,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.694,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000330684.4",
"gene_symbol": "GRIN2A",
"hgnc_id": 4585,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Phe"
}
],
"clinvar_disease": "Landau-Kleffner syndrome,Pyridoxine-dependent epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Pyridoxine-dependent epilepsy|Landau-Kleffner syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}