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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: 6-117301070-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=117301070&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ROS1",
"hgnc_id": 10261,
"hgvs_c": "c.6637G>A",
"hgvs_p": "p.Asp2213Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_002944.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 377988,
"alphamissense_prediction": null,
"alphamissense_score": 0.0781,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00264585018157959,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2341,
"aa_ref": "D",
"aa_start": 2207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 6905,
"cds_end": null,
"cds_length": 7026,
"cds_start": 6619,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001378902.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6619G>A",
"hgvs_p": "p.Asp2207Asn",
"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": "N",
"aa_end": null,
"aa_length": 2341,
"aa_ref": "D",
"aa_start": 2207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 6905,
"cds_end": null,
"cds_length": 7026,
"cds_start": 6619,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000368507.8",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6619G>A",
"hgvs_p": "p.Asp2207Asn",
"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": "N",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "D",
"aa_start": 2213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7435,
"cdna_start": 6836,
"cds_end": null,
"cds_length": 7044,
"cds_start": 6637,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000368508.7",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6637G>A",
"hgvs_p": "p.Asp2213Asn",
"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": "N",
"aa_end": null,
"aa_length": 2356,
"aa_ref": "D",
"aa_start": 2222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8231,
"cdna_start": 6695,
"cds_end": null,
"cds_length": 7071,
"cds_start": 6664,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000957000.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6664G>A",
"hgvs_p": "p.Asp2222Asn",
"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": "N",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "D",
"aa_start": 2213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8469,
"cdna_start": 6923,
"cds_end": null,
"cds_length": 7044,
"cds_start": 6637,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_002944.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6637G>A",
"hgvs_p": "p.Asp2213Asn",
"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": "N",
"aa_end": null,
"aa_length": 2343,
"aa_ref": "D",
"aa_start": 2209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 6911,
"cds_end": null,
"cds_length": 7032,
"cds_start": 6625,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001378891.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6625G>A",
"hgvs_p": "p.Asp2209Asn",
"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": "N",
"aa_end": null,
"aa_length": 2298,
"aa_ref": "D",
"aa_start": 2164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8117,
"cdna_start": 6575,
"cds_end": null,
"cds_length": 6897,
"cds_start": 6490,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000956999.1",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6490G>A",
"hgvs_p": "p.Asp2164Asn",
"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": "N",
"aa_end": null,
"aa_length": 2357,
"aa_ref": "D",
"aa_start": 2223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8499,
"cdna_start": 6953,
"cds_end": null,
"cds_length": 7074,
"cds_start": 6667,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011536049.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6667G>A",
"hgvs_p": "p.Asp2223Asn",
"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": "N",
"aa_end": null,
"aa_length": 2356,
"aa_ref": "D",
"aa_start": 2222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8496,
"cdna_start": 6950,
"cds_end": null,
"cds_length": 7071,
"cds_start": 6664,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011536050.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6664G>A",
"hgvs_p": "p.Asp2222Asn",
"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": "N",
"aa_end": null,
"aa_length": 2348,
"aa_ref": "D",
"aa_start": 2214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8472,
"cdna_start": 6926,
"cds_end": null,
"cds_length": 7047,
"cds_start": 6640,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_011536051.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6640G>A",
"hgvs_p": "p.Asp2214Asn",
"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": "N",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "D",
"aa_start": 2208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8454,
"cdna_start": 6908,
"cds_end": null,
"cds_length": 7029,
"cds_start": 6622,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_006715548.5",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6622G>A",
"hgvs_p": "p.Asp2208Asn",
"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": "N",
"aa_end": null,
"aa_length": 2334,
"aa_ref": "D",
"aa_start": 2200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8430,
"cdna_start": 6884,
"cds_end": null,
"cds_length": 7005,
"cds_start": 6598,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017011172.2",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6598G>A",
"hgvs_p": "p.Asp2200Asn",
"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": "N",
"aa_end": null,
"aa_length": 2333,
"aa_ref": "D",
"aa_start": 2199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8427,
"cdna_start": 6881,
"cds_end": null,
"cds_length": 7002,
"cds_start": 6595,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017011173.2",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"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": "N",
"aa_end": null,
"aa_length": 2299,
"aa_ref": "D",
"aa_start": 2165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8325,
"cdna_start": 6779,
"cds_end": null,
"cds_length": 6900,
"cds_start": 6493,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011536053.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6493G>A",
"hgvs_p": "p.Asp2165Asn",
"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": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536054.3",
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"hgvs_c": "c.6599+7724G>A",
"hgvs_p": null,
"intron_rank": 42,
"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": "rs529038",
"effect": "missense_variant",
"frequency_reference_population": 0.23582096,
"gene_hgnc_id": 10261,
"gene_symbol": "ROS1",
"gnomad_exomes_ac": 349551,
"gnomad_exomes_af": 0.240944,
"gnomad_exomes_homalt": 44305,
"gnomad_genomes_ac": 28437,
"gnomad_genomes_af": 0.186958,
"gnomad_genomes_homalt": 3241,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 47546,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.924,
"pos": 117301070,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.156,
"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"
}
]
}