← 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: 5-70076545-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=70076545&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 70076545,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380743.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "NM_017411.4",
"protein_id": "NP_059107.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 294,
"cds_start": 859,
"cds_end": null,
"cds_length": 885,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": "ENST00000380743.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "ENST00000380743.9",
"protein_id": "ENSP00000370119.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 294,
"cds_start": 859,
"cds_end": null,
"cds_length": 885,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": "NM_017411.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "ENST00000380741.8",
"protein_id": "ENSP00000370117.5",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 294,
"cds_start": 859,
"cds_end": null,
"cds_length": 885,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.835-474G>C",
"hgvs_p": null,
"transcript": "ENST00000626847.2",
"protein_id": "ENSP00000486152.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "NM_022876.2",
"protein_id": "NP_075014.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 262,
"cds_start": 763,
"cds_end": null,
"cds_length": 789,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000380742.8",
"protein_id": "ENSP00000370118.4",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 262,
"cds_start": 763,
"cds_end": null,
"cds_length": 789,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000614240.4",
"protein_id": "ENSP00000479279.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 262,
"cds_start": 763,
"cds_end": null,
"cds_length": 789,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.658G>C",
"hgvs_p": "p.Gly220Arg",
"transcript": "ENST00000511812.5",
"protein_id": "ENSP00000424282.1",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 227,
"cds_start": 658,
"cds_end": null,
"cds_length": 684,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.658G>C",
"hgvs_p": "p.Gly220Arg",
"transcript": "XM_011543600.3",
"protein_id": "XP_011541902.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 227,
"cds_start": 658,
"cds_end": null,
"cds_length": 684,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.562G>C",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_011543602.4",
"protein_id": "XP_011541904.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 195,
"cds_start": 562,
"cds_end": null,
"cds_length": 588,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "n.325G>C",
"hgvs_p": null,
"transcript": "ENST00000505346.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000507458.2",
"protein_id": "ENSP00000475331.1",
"transcript_support_level": 3,
"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": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "n.400G>C",
"hgvs_p": null,
"transcript": "ENST00000514914.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.835-474G>C",
"hgvs_p": null,
"transcript": "NM_022875.3",
"protein_id": "NP_075013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.739-474G>C",
"hgvs_p": null,
"transcript": "NM_022877.2",
"protein_id": "NP_075015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "n.*59-474G>C",
"hgvs_p": null,
"transcript": "ENST00000506734.5",
"protein_id": "ENSP00000424799.1",
"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": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.834+5794G>C",
"hgvs_p": null,
"transcript": "XM_047417619.1",
"protein_id": "XP_047273575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.738+5794G>C",
"hgvs_p": null,
"transcript": "XM_047417620.1",
"protein_id": "XP_047273576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": -4,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.633+5794G>C",
"hgvs_p": null,
"transcript": "XM_047417621.1",
"protein_id": "XP_047273577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.634-474G>C",
"hgvs_p": null,
"transcript": "XM_011543601.2",
"protein_id": "XP_011541903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.537+5794G>C",
"hgvs_p": null,
"transcript": "XM_047417622.1",
"protein_id": "XP_047273578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"hgvs_c": "c.538-474G>C",
"hgvs_p": null,
"transcript": "XM_011543603.4",
"protein_id": "XP_011541905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMN2",
"gene_hgnc_id": 11118,
"dbsnp": "rs121909192",
"frequency_reference_population": 0.0031295198,
"hom_count_reference_population": 942,
"allele_count_reference_population": 4583,
"gnomad_exomes_af": 0.00321573,
"gnomad_genomes_af": 0.00223571,
"gnomad_exomes_ac": 4295,
"gnomad_genomes_ac": 288,
"gnomad_exomes_homalt": 888,
"gnomad_genomes_homalt": 54,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0688638985157013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.803,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.782,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000380743.9",
"gene_symbol": "SMN2",
"hgnc_id": 11118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg"
}
],
"clinvar_disease": " modifier of,Kugelberg-Welander disease,Spinal muscular atrophy,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1 LB:2 O:1",
"phenotype_combined": "Spinal muscular atrophy, modifier of|Spinal muscular atrophy|Kugelberg-Welander disease|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}