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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: 14-50138716-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50138716&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50138716,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000216373.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2854G>T",
"hgvs_p": "p.Asp952Tyr",
"transcript": "NM_006939.4",
"protein_id": "NP_008870.2",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1332,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": "ENST00000216373.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2854G>T",
"hgvs_p": "p.Asp952Tyr",
"transcript": "ENST00000216373.10",
"protein_id": "ENSP00000216373.5",
"transcript_support_level": 1,
"aa_start": 952,
"aa_end": null,
"aa_length": 1332,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": "NM_006939.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2755G>T",
"hgvs_p": "p.Asp919Tyr",
"transcript": "ENST00000543680.5",
"protein_id": "ENSP00000445328.1",
"transcript_support_level": 1,
"aa_start": 919,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2755G>T",
"hgvs_p": "p.Asp919Tyr",
"transcript": "NM_001411020.1",
"protein_id": "NP_001397949.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"transcript": "XM_047431713.1",
"protein_id": "XP_047287669.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3049,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2995G>T",
"hgvs_p": "p.Asp999Tyr",
"transcript": "XM_047431714.1",
"protein_id": "XP_047287670.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1379,
"cds_start": 2995,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3290,
"cdna_end": null,
"cdna_length": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2950G>T",
"hgvs_p": "p.Asp984Tyr",
"transcript": "XM_047431715.1",
"protein_id": "XP_047287671.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1364,
"cds_start": 2950,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2908G>T",
"hgvs_p": "p.Asp970Tyr",
"transcript": "XM_047431716.1",
"protein_id": "XP_047287672.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1350,
"cds_start": 2908,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2896G>T",
"hgvs_p": "p.Asp966Tyr",
"transcript": "XM_047431717.1",
"protein_id": "XP_047287673.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1346,
"cds_start": 2896,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2869G>T",
"hgvs_p": "p.Asp957Tyr",
"transcript": "XM_047431718.1",
"protein_id": "XP_047287674.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2869,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3262,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2815G>T",
"hgvs_p": "p.Asp939Tyr",
"transcript": "XM_047431719.1",
"protein_id": "XP_047287675.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2728G>T",
"hgvs_p": "p.Asp910Tyr",
"transcript": "XM_047431722.1",
"protein_id": "XP_047287678.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2728,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"hgvs_c": "c.2728G>T",
"hgvs_p": "p.Asp910Tyr",
"transcript": "XM_047431723.1",
"protein_id": "XP_047287679.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2728,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOS2",
"gene_hgnc_id": 11188,
"dbsnp": "rs200387871",
"frequency_reference_population": 0.0000041729886,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000417299,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3113943040370941,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.222,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.483,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000216373.10",
"gene_symbol": "SOS2",
"hgnc_id": 11188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2854G>T",
"hgvs_p": "p.Asp952Tyr"
}
],
"clinvar_disease": "Noonan syndrome 9",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Noonan syndrome 9",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}