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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: 14-50118794-T-TGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50118794&ref=T&alt=TGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50118794,
"ref": "T",
"alt": "TGGA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000216373.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3546_3548dupTCC",
"hgvs_p": "p.Pro1183dup",
"transcript": "NM_006939.4",
"protein_id": "NP_008870.2",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": "ENST00000216373.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3546_3548dupTCC",
"hgvs_p": "p.Pro1183dup",
"transcript": "ENST00000216373.10",
"protein_id": "ENSP00000216373.5",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": "NM_006939.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3447_3449dupTCC",
"hgvs_p": "p.Pro1150dup",
"transcript": "ENST00000543680.5",
"protein_id": "ENSP00000445328.1",
"transcript_support_level": 1,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3447_3449dupTCC",
"hgvs_p": "p.Pro1150dup",
"transcript": "NM_001411020.1",
"protein_id": "NP_001397949.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3741_3743dupTCC",
"hgvs_p": "p.Pro1248dup",
"transcript": "XM_047431713.1",
"protein_id": "XP_047287669.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3743,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 4038,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3687_3689dupTCC",
"hgvs_p": "p.Pro1230dup",
"transcript": "XM_047431714.1",
"protein_id": "XP_047287670.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3689,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3984,
"cdna_end": null,
"cdna_length": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3642_3644dupTCC",
"hgvs_p": "p.Pro1215dup",
"transcript": "XM_047431715.1",
"protein_id": "XP_047287671.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3600_3602dupTCC",
"hgvs_p": "p.Pro1201dup",
"transcript": "XM_047431716.1",
"protein_id": "XP_047287672.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3602,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3897,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3588_3590dupTCC",
"hgvs_p": "p.Pro1197dup",
"transcript": "XM_047431717.1",
"protein_id": "XP_047287673.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3590,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 3885,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3561_3563dupTCC",
"hgvs_p": "p.Pro1188dup",
"transcript": "XM_047431718.1",
"protein_id": "XP_047287674.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3563,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3956,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3507_3509dupTCC",
"hgvs_p": "p.Pro1170dup",
"transcript": "XM_047431719.1",
"protein_id": "XP_047287675.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3509,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3420_3422dupTCC",
"hgvs_p": "p.Pro1141dup",
"transcript": "XM_047431722.1",
"protein_id": "XP_047287678.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3420_3422dupTCC",
"hgvs_p": "p.Pro1141dup",
"transcript": "XM_047431723.1",
"protein_id": "XP_047287679.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"dbsnp": "rs765097073",
"frequency_reference_population": 0.00016319817,
"hom_count_reference_population": 1,
"allele_count_reference_population": 254,
"gnomad_exomes_af": 0.000160259,
"gnomad_genomes_af": 0.000191558,
"gnomad_exomes_ac": 226,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.662,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000216373.10",
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3546_3548dupTCC",
"hgvs_p": "p.Pro1183dup"
}
],
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome 9,Noonan syndrome and Noonan-related syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "Noonan syndrome 9|not provided|Noonan syndrome and Noonan-related syndrome|not specified|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}