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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: 6-117288553-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=117288553&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ROS1",
"hgnc_id": 10261,
"hgvs_c": "c.6983A>T",
"hgvs_p": "p.Lys2328Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002944.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0997,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04858049750328064,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2341,
"aa_ref": "K",
"aa_start": 2322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 7251,
"cds_end": null,
"cds_length": 7026,
"cds_start": 6965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001378902.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6965A>T",
"hgvs_p": "p.Lys2322Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368507.8",
"protein_coding": true,
"protein_id": "NP_001365831.1",
"strand": false,
"transcript": "NM_001378902.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2341,
"aa_ref": "K",
"aa_start": 2322,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 7251,
"cds_end": null,
"cds_length": 7026,
"cds_start": 6965,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000368507.8",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6965A>T",
"hgvs_p": "p.Lys2322Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378902.1",
"protein_coding": true,
"protein_id": "ENSP00000357493.3",
"strand": false,
"transcript": "ENST00000368507.8",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "K",
"aa_start": 2328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7435,
"cdna_start": 7182,
"cds_end": null,
"cds_length": 7044,
"cds_start": 6983,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000368508.7",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6983A>T",
"hgvs_p": "p.Lys2328Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357494.3",
"strand": false,
"transcript": "ENST00000368508.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2356,
"aa_ref": "K",
"aa_start": 2337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8231,
"cdna_start": 7041,
"cds_end": null,
"cds_length": 7071,
"cds_start": 7010,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000957000.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.7010A>T",
"hgvs_p": "p.Lys2337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627059.1",
"strand": false,
"transcript": "ENST00000957000.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "K",
"aa_start": 2328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8469,
"cdna_start": 7269,
"cds_end": null,
"cds_length": 7044,
"cds_start": 6983,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_002944.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6983A>T",
"hgvs_p": "p.Lys2328Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002935.2",
"strand": false,
"transcript": "NM_002944.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2343,
"aa_ref": "K",
"aa_start": 2324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 7257,
"cds_end": null,
"cds_length": 7032,
"cds_start": 6971,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001378891.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6971A>T",
"hgvs_p": "p.Lys2324Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365820.1",
"strand": false,
"transcript": "NM_001378891.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2298,
"aa_ref": "K",
"aa_start": 2279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8117,
"cdna_start": 6921,
"cds_end": null,
"cds_length": 6897,
"cds_start": 6836,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000956999.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6836A>T",
"hgvs_p": "p.Lys2279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627058.1",
"strand": false,
"transcript": "ENST00000956999.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2357,
"aa_ref": "K",
"aa_start": 2338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8499,
"cdna_start": 7299,
"cds_end": null,
"cds_length": 7074,
"cds_start": 7013,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011536049.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.7013A>T",
"hgvs_p": "p.Lys2338Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534351.1",
"strand": false,
"transcript": "XM_011536049.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2356,
"aa_ref": "K",
"aa_start": 2337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8496,
"cdna_start": 7296,
"cds_end": null,
"cds_length": 7071,
"cds_start": 7010,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011536050.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.7010A>T",
"hgvs_p": "p.Lys2337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534352.1",
"strand": false,
"transcript": "XM_011536050.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2348,
"aa_ref": "K",
"aa_start": 2329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8472,
"cdna_start": 7272,
"cds_end": null,
"cds_length": 7047,
"cds_start": 6986,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011536051.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6986A>T",
"hgvs_p": "p.Lys2329Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534353.1",
"strand": false,
"transcript": "XM_011536051.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "K",
"aa_start": 2323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8454,
"cdna_start": 7254,
"cds_end": null,
"cds_length": 7029,
"cds_start": 6968,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_006715548.5",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6968A>T",
"hgvs_p": "p.Lys2323Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715611.1",
"strand": false,
"transcript": "XM_006715548.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2334,
"aa_ref": "K",
"aa_start": 2315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8430,
"cdna_start": 7230,
"cds_end": null,
"cds_length": 7005,
"cds_start": 6944,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017011172.2",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6944A>T",
"hgvs_p": "p.Lys2315Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866661.1",
"strand": false,
"transcript": "XM_017011172.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2333,
"aa_ref": "K",
"aa_start": 2314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8427,
"cdna_start": 7227,
"cds_end": null,
"cds_length": 7002,
"cds_start": 6941,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017011173.2",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6941A>T",
"hgvs_p": "p.Lys2314Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866662.1",
"strand": false,
"transcript": "XM_017011173.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2299,
"aa_ref": "K",
"aa_start": 2280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8325,
"cdna_start": 7125,
"cds_end": null,
"cds_length": 6900,
"cds_start": 6839,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011536053.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6839A>T",
"hgvs_p": "p.Lys2280Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534355.1",
"strand": false,
"transcript": "XM_011536053.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2200,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8335,
"cdna_start": null,
"cds_end": null,
"cds_length": 6603,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011536054.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534356.1",
"strand": false,
"transcript": "XM_011536054.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs35932630",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.062,
"pos": 117288553,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.276,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002944.3"
}
]
}