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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: 6-117310128-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=117310128&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 117310128,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001378902.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6369T>C",
"hgvs_p": "p.Ala2123Ala",
"transcript": "NM_001378902.1",
"protein_id": "NP_001365831.1",
"transcript_support_level": null,
"aa_start": 2123,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6369,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6655,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": "ENST00000368507.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6369T>C",
"hgvs_p": "p.Ala2123Ala",
"transcript": "ENST00000368507.8",
"protein_id": "ENSP00000357493.3",
"transcript_support_level": 5,
"aa_start": 2123,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6369,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 6655,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": "NM_001378902.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6387T>C",
"hgvs_p": "p.Ala2129Ala",
"transcript": "ENST00000368508.7",
"protein_id": "ENSP00000357494.3",
"transcript_support_level": 1,
"aa_start": 2129,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6387,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 6586,
"cdna_end": null,
"cdna_length": 7435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6387T>C",
"hgvs_p": "p.Ala2129Ala",
"transcript": "NM_002944.3",
"protein_id": "NP_002935.2",
"transcript_support_level": null,
"aa_start": 2129,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6387,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 6673,
"cdna_end": null,
"cdna_length": 8469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6375T>C",
"hgvs_p": "p.Ala2125Ala",
"transcript": "NM_001378891.1",
"protein_id": "NP_001365820.1",
"transcript_support_level": null,
"aa_start": 2125,
"aa_end": null,
"aa_length": 2343,
"cds_start": 6375,
"cds_end": null,
"cds_length": 7032,
"cdna_start": 6661,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6417T>C",
"hgvs_p": "p.Ala2139Ala",
"transcript": "XM_011536049.3",
"protein_id": "XP_011534351.1",
"transcript_support_level": null,
"aa_start": 2139,
"aa_end": null,
"aa_length": 2357,
"cds_start": 6417,
"cds_end": null,
"cds_length": 7074,
"cdna_start": 6703,
"cdna_end": null,
"cdna_length": 8499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6414T>C",
"hgvs_p": "p.Ala2138Ala",
"transcript": "XM_011536050.3",
"protein_id": "XP_011534352.1",
"transcript_support_level": null,
"aa_start": 2138,
"aa_end": null,
"aa_length": 2356,
"cds_start": 6414,
"cds_end": null,
"cds_length": 7071,
"cdna_start": 6700,
"cdna_end": null,
"cdna_length": 8496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6390T>C",
"hgvs_p": "p.Ala2130Ala",
"transcript": "XM_011536051.3",
"protein_id": "XP_011534353.1",
"transcript_support_level": null,
"aa_start": 2130,
"aa_end": null,
"aa_length": 2348,
"cds_start": 6390,
"cds_end": null,
"cds_length": 7047,
"cdna_start": 6676,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6372T>C",
"hgvs_p": "p.Ala2124Ala",
"transcript": "XM_006715548.5",
"protein_id": "XP_006715611.1",
"transcript_support_level": null,
"aa_start": 2124,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6372,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6658,
"cdna_end": null,
"cdna_length": 8454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6348T>C",
"hgvs_p": "p.Ala2116Ala",
"transcript": "XM_017011172.2",
"protein_id": "XP_016866661.1",
"transcript_support_level": null,
"aa_start": 2116,
"aa_end": null,
"aa_length": 2334,
"cds_start": 6348,
"cds_end": null,
"cds_length": 7005,
"cdna_start": 6634,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6345T>C",
"hgvs_p": "p.Ala2115Ala",
"transcript": "XM_017011173.2",
"protein_id": "XP_016866662.1",
"transcript_support_level": null,
"aa_start": 2115,
"aa_end": null,
"aa_length": 2333,
"cds_start": 6345,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 6631,
"cdna_end": null,
"cdna_length": 8427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6243T>C",
"hgvs_p": "p.Ala2081Ala",
"transcript": "XM_011536053.3",
"protein_id": "XP_011534355.1",
"transcript_support_level": null,
"aa_start": 2081,
"aa_end": null,
"aa_length": 2299,
"cds_start": 6243,
"cds_end": null,
"cds_length": 6900,
"cdna_start": 6529,
"cdna_end": null,
"cdna_length": 8325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6417T>C",
"hgvs_p": "p.Ala2139Ala",
"transcript": "XM_011536054.3",
"protein_id": "XP_011534356.1",
"transcript_support_level": null,
"aa_start": 2139,
"aa_end": null,
"aa_length": 2200,
"cds_start": 6417,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 6703,
"cdna_end": null,
"cdna_length": 8335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"dbsnp": "rs145358991",
"frequency_reference_population": 0.00007127416,
"hom_count_reference_population": 0,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.0000718525,
"gnomad_genomes_af": 0.0000657203,
"gnomad_exomes_ac": 105,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.099,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001378902.1",
"gene_symbol": "ROS1",
"hgnc_id": 10261,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6369T>C",
"hgvs_p": "p.Ala2123Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}