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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: 2-157542836-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=157542836&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 157542836,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145259.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Ile324Val",
"transcript": "NM_145259.3",
"protein_id": "NP_660302.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 493,
"cds_start": 970,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 8853,
"mane_select": "ENST00000243349.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145259.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Ile324Val",
"transcript": "ENST00000243349.13",
"protein_id": "ENSP00000243349.7",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 493,
"cds_start": 970,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 8853,
"mane_select": "NM_145259.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243349.13"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Ile274Val",
"transcript": "ENST00000409680.7",
"protein_id": "ENSP00000387168.3",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 443,
"cds_start": 820,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409680.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "ENST00000335450.7",
"protein_id": "ENSP00000335178.7",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 413,
"cds_start": 730,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335450.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Ile167Val",
"transcript": "ENST00000348328.9",
"protein_id": "ENSP00000335139.6",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 336,
"cds_start": 499,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348328.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Ile298Val",
"transcript": "ENST00000906710.1",
"protein_id": "ENSP00000576769.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 467,
"cds_start": 892,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906710.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Ile274Val",
"transcript": "NM_001111031.2",
"protein_id": "NP_001104501.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 443,
"cds_start": 820,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 8761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111031.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.739A>G",
"hgvs_p": "p.Ile247Val",
"transcript": "ENST00000906709.1",
"protein_id": "ENSP00000576768.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 416,
"cds_start": 739,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906709.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.739A>G",
"hgvs_p": "p.Ile247Val",
"transcript": "ENST00000906711.1",
"protein_id": "ENSP00000576770.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 416,
"cds_start": 739,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906711.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "NM_001111032.2",
"protein_id": "NP_001104502.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 413,
"cds_start": 730,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 8613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111032.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Ile167Val",
"transcript": "NM_001111033.2",
"protein_id": "NP_001104503.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 336,
"cds_start": 499,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 8382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111033.2"
}
],
"gene_symbol": "ACVR1C",
"gene_hgnc_id": 18123,
"dbsnp": "rs377362010",
"frequency_reference_population": 0.000035935518,
"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000383097,
"gnomad_genomes_af": 0.0000131378,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46155935525894165,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.338,
"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": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_145259.3",
"gene_symbol": "ACVR1C",
"hgnc_id": 18123,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Ile324Val"
}
],
"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
}