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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: 6-117319899-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=117319899&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 117319899,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002944.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5891T>C",
"hgvs_p": "p.Val1964Ala",
"transcript": "NM_001378902.1",
"protein_id": "NP_001365831.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2341,
"cds_start": 5891,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368507.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378902.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5891T>C",
"hgvs_p": "p.Val1964Ala",
"transcript": "ENST00000368507.8",
"protein_id": "ENSP00000357493.3",
"transcript_support_level": 5,
"aa_start": 1964,
"aa_end": null,
"aa_length": 2341,
"cds_start": 5891,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378902.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368507.8"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5909T>C",
"hgvs_p": "p.Val1970Ala",
"transcript": "ENST00000368508.7",
"protein_id": "ENSP00000357494.3",
"transcript_support_level": 1,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2347,
"cds_start": 5909,
"cds_end": null,
"cds_length": 7044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368508.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282218",
"gene_hgnc_id": null,
"hgvs_c": "c.857T>C",
"hgvs_p": "p.Val286Ala",
"transcript": "ENST00000467125.1",
"protein_id": "ENSP00000487717.1",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 309,
"cds_start": 857,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467125.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5936T>C",
"hgvs_p": "p.Val1979Ala",
"transcript": "ENST00000957000.1",
"protein_id": "ENSP00000627059.1",
"transcript_support_level": null,
"aa_start": 1979,
"aa_end": null,
"aa_length": 2356,
"cds_start": 5936,
"cds_end": null,
"cds_length": 7071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957000.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5909T>C",
"hgvs_p": "p.Val1970Ala",
"transcript": "NM_002944.3",
"protein_id": "NP_002935.2",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2347,
"cds_start": 5909,
"cds_end": null,
"cds_length": 7044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002944.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5897T>C",
"hgvs_p": "p.Val1966Ala",
"transcript": "NM_001378891.1",
"protein_id": "NP_001365820.1",
"transcript_support_level": null,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2343,
"cds_start": 5897,
"cds_end": null,
"cds_length": 7032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378891.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5762T>C",
"hgvs_p": "p.Val1921Ala",
"transcript": "ENST00000956999.1",
"protein_id": "ENSP00000627058.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2298,
"cds_start": 5762,
"cds_end": null,
"cds_length": 6897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956999.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5939T>C",
"hgvs_p": "p.Val1980Ala",
"transcript": "XM_011536049.3",
"protein_id": "XP_011534351.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2357,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536049.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5936T>C",
"hgvs_p": "p.Val1979Ala",
"transcript": "XM_011536050.3",
"protein_id": "XP_011534352.1",
"transcript_support_level": null,
"aa_start": 1979,
"aa_end": null,
"aa_length": 2356,
"cds_start": 5936,
"cds_end": null,
"cds_length": 7071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536050.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5912T>C",
"hgvs_p": "p.Val1971Ala",
"transcript": "XM_011536051.3",
"protein_id": "XP_011534353.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 2348,
"cds_start": 5912,
"cds_end": null,
"cds_length": 7047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536051.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5894T>C",
"hgvs_p": "p.Val1965Ala",
"transcript": "XM_006715548.5",
"protein_id": "XP_006715611.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5894,
"cds_end": null,
"cds_length": 7029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715548.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5870T>C",
"hgvs_p": "p.Val1957Ala",
"transcript": "XM_017011172.2",
"protein_id": "XP_016866661.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2334,
"cds_start": 5870,
"cds_end": null,
"cds_length": 7005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011172.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5867T>C",
"hgvs_p": "p.Val1956Ala",
"transcript": "XM_017011173.2",
"protein_id": "XP_016866662.1",
"transcript_support_level": null,
"aa_start": 1956,
"aa_end": null,
"aa_length": 2333,
"cds_start": 5867,
"cds_end": null,
"cds_length": 7002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011173.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5765T>C",
"hgvs_p": "p.Val1922Ala",
"transcript": "XM_011536053.3",
"protein_id": "XP_011534355.1",
"transcript_support_level": null,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2299,
"cds_start": 5765,
"cds_end": null,
"cds_length": 6900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536053.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"hgvs_c": "c.5939T>C",
"hgvs_p": "p.Val1980Ala",
"transcript": "XM_011536054.3",
"protein_id": "XP_011534356.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2200,
"cds_start": 5939,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536054.3"
}
],
"gene_symbol": "ROS1",
"gene_hgnc_id": 10261,
"dbsnp": "rs371159504",
"frequency_reference_population": 0.000014879698,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000150573,
"gnomad_genomes_af": 0.0000131711,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027552634477615356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.0551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.271,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002944.3",
"gene_symbol": "ROS1",
"hgnc_id": 10261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5909T>C",
"hgvs_p": "p.Val1970Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000467125.1",
"gene_symbol": "ENSG00000282218",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.857T>C",
"hgvs_p": "p.Val286Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}