← Back to variant description
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: 9-35660801-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35660801&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35660801,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_174923.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"transcript": "NM_174923.3",
"protein_id": "NP_777583.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 283,
"cds_start": 466,
"cds_end": null,
"cds_length": 852,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": "ENST00000426546.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"transcript": "ENST00000426546.7",
"protein_id": "ENSP00000414964.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 283,
"cds_start": 466,
"cds_end": null,
"cds_length": 852,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": "NM_174923.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"transcript": "ENST00000378409.7",
"protein_id": "ENSP00000367665.3",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 256,
"cds_start": 466,
"cds_end": null,
"cds_length": 771,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.His149Arg",
"transcript": "ENST00000327351.6",
"protein_id": "ENSP00000330327.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 155,
"cds_start": 446,
"cds_end": null,
"cds_length": 468,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF39",
"gene_hgnc_id": 25909,
"hgvs_c": "n.*441T>C",
"hgvs_p": null,
"transcript": "ENST00000490638.5",
"protein_id": "ENSP00000436756.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4498,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF39",
"gene_hgnc_id": 25909,
"hgvs_c": "c.*1186T>C",
"hgvs_p": null,
"transcript": "NM_032818.3",
"protein_id": "NP_116207.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": "ENST00000378387.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF39",
"gene_hgnc_id": 25909,
"hgvs_c": "c.*1186T>C",
"hgvs_p": null,
"transcript": "ENST00000378387.4",
"protein_id": "ENSP00000367638.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": "NM_032818.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF39",
"gene_hgnc_id": 25909,
"hgvs_c": "n.*441T>C",
"hgvs_p": null,
"transcript": "ENST00000490638.5",
"protein_id": "ENSP00000436756.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"transcript": "NM_001195200.2",
"protein_id": "NP_001182129.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 256,
"cds_start": 466,
"cds_end": null,
"cds_length": 771,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.His149Arg",
"transcript": "NM_001195201.2",
"protein_id": "NP_001182130.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 155,
"cds_start": 446,
"cds_end": null,
"cds_length": 468,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF39",
"gene_hgnc_id": 25909,
"hgvs_c": "n.*1274T>C",
"hgvs_p": null,
"transcript": "ENST00000475323.5",
"protein_id": "ENSP00000436519.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.*18A>G",
"hgvs_p": null,
"transcript": "NM_001195217.2",
"protein_id": "NP_001182146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.*18A>G",
"hgvs_p": null,
"transcript": "ENST00000378407.7",
"protein_id": "ENSP00000367662.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.*150A>G",
"hgvs_p": null,
"transcript": "ENST00000378406.5",
"protein_id": "ENSP00000367661.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.*299A>G",
"hgvs_p": null,
"transcript": "ENST00000421582.2",
"protein_id": "ENSP00000413003.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF39",
"gene_hgnc_id": 25909,
"hgvs_c": "n.*1274T>C",
"hgvs_p": null,
"transcript": "ENST00000475323.5",
"protein_id": "ENSP00000436519.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"hgvs_c": "c.*18A>G",
"hgvs_p": null,
"transcript": "XM_005251403.6",
"protein_id": "XP_005251460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC107",
"gene_hgnc_id": 28465,
"dbsnp": "rs747669830",
"frequency_reference_population": 0.0000086737255,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889283,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029103577136993408,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.2307,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.096,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_174923.3",
"gene_symbol": "CCDC107",
"hgnc_id": 28465,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032818.3",
"gene_symbol": "ARHGEF39",
"hgnc_id": 25909,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1186T>C",
"hgvs_p": null
}
],
"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
}