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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: 6-117288506-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=117288506&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 117288506,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001378902.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7012G>A",
"hgvs_p": "p.Asp2338Asn",
"transcript": "NM_001378902.1",
"protein_id": "NP_001365831.1",
"transcript_support_level": null,
"aa_start": 2338,
"aa_end": null,
"aa_length": 2341,
"cds_start": 7012,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 7298,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": "ENST00000368507.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7012G>A",
"hgvs_p": "p.Asp2338Asn",
"transcript": "ENST00000368507.8",
"protein_id": "ENSP00000357493.3",
"transcript_support_level": 5,
"aa_start": 2338,
"aa_end": null,
"aa_length": 2341,
"cds_start": 7012,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 7298,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": "NM_001378902.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7030G>A",
"hgvs_p": "p.Asp2344Asn",
"transcript": "ENST00000368508.7",
"protein_id": "ENSP00000357494.3",
"transcript_support_level": 1,
"aa_start": 2344,
"aa_end": null,
"aa_length": 2347,
"cds_start": 7030,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 7229,
"cdna_end": null,
"cdna_length": 7435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7030G>A",
"hgvs_p": "p.Asp2344Asn",
"transcript": "NM_002944.3",
"protein_id": "NP_002935.2",
"transcript_support_level": null,
"aa_start": 2344,
"aa_end": null,
"aa_length": 2347,
"cds_start": 7030,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 7316,
"cdna_end": null,
"cdna_length": 8469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7018G>A",
"hgvs_p": "p.Asp2340Asn",
"transcript": "NM_001378891.1",
"protein_id": "NP_001365820.1",
"transcript_support_level": null,
"aa_start": 2340,
"aa_end": null,
"aa_length": 2343,
"cds_start": 7018,
"cds_end": null,
"cds_length": 7032,
"cdna_start": 7304,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7060G>A",
"hgvs_p": "p.Asp2354Asn",
"transcript": "XM_011536049.3",
"protein_id": "XP_011534351.1",
"transcript_support_level": null,
"aa_start": 2354,
"aa_end": null,
"aa_length": 2357,
"cds_start": 7060,
"cds_end": null,
"cds_length": 7074,
"cdna_start": 7346,
"cdna_end": null,
"cdna_length": 8499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7057G>A",
"hgvs_p": "p.Asp2353Asn",
"transcript": "XM_011536050.3",
"protein_id": "XP_011534352.1",
"transcript_support_level": null,
"aa_start": 2353,
"aa_end": null,
"aa_length": 2356,
"cds_start": 7057,
"cds_end": null,
"cds_length": 7071,
"cdna_start": 7343,
"cdna_end": null,
"cdna_length": 8496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7033G>A",
"hgvs_p": "p.Asp2345Asn",
"transcript": "XM_011536051.3",
"protein_id": "XP_011534353.1",
"transcript_support_level": null,
"aa_start": 2345,
"aa_end": null,
"aa_length": 2348,
"cds_start": 7033,
"cds_end": null,
"cds_length": 7047,
"cdna_start": 7319,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.7015G>A",
"hgvs_p": "p.Asp2339Asn",
"transcript": "XM_006715548.5",
"protein_id": "XP_006715611.1",
"transcript_support_level": null,
"aa_start": 2339,
"aa_end": null,
"aa_length": 2342,
"cds_start": 7015,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 7301,
"cdna_end": null,
"cdna_length": 8454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6991G>A",
"hgvs_p": "p.Asp2331Asn",
"transcript": "XM_017011172.2",
"protein_id": "XP_016866661.1",
"transcript_support_level": null,
"aa_start": 2331,
"aa_end": null,
"aa_length": 2334,
"cds_start": 6991,
"cds_end": null,
"cds_length": 7005,
"cdna_start": 7277,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6988G>A",
"hgvs_p": "p.Asp2330Asn",
"transcript": "XM_017011173.2",
"protein_id": "XP_016866662.1",
"transcript_support_level": null,
"aa_start": 2330,
"aa_end": null,
"aa_length": 2333,
"cds_start": 6988,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 7274,
"cdna_end": null,
"cdna_length": 8427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.6886G>A",
"hgvs_p": "p.Asp2296Asn",
"transcript": "XM_011536053.3",
"protein_id": "XP_011534355.1",
"transcript_support_level": null,
"aa_start": 2296,
"aa_end": null,
"aa_length": 2299,
"cds_start": 6886,
"cds_end": null,
"cds_length": 6900,
"cdna_start": 7172,
"cdna_end": null,
"cdna_length": 8325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.*293G>A",
"hgvs_p": null,
"transcript": "XM_011536054.3",
"protein_id": "XP_011534356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2200,
"cds_start": -4,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"dbsnp": "rs766555708",
"frequency_reference_population": 0.000009921964,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000075325,
"gnomad_genomes_af": 0.0000328416,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17149761319160461,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.0757,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.356,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001378902.1",
"gene_symbol": "ROS1",
"hgnc_id": 10261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7012G>A",
"hgvs_p": "p.Asp2338Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}