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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: 15-48470705-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48470705&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48470705,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000138.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.4388A>G",
"hgvs_p": "p.Asn1463Ser",
"transcript": "NM_000138.5",
"protein_id": "NP_000129.3",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 2871,
"cds_start": 4388,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 4704,
"cdna_end": null,
"cdna_length": 11609,
"mane_select": "ENST00000316623.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000138.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.4388A>G",
"hgvs_p": "p.Asn1463Ser",
"transcript": "ENST00000316623.10",
"protein_id": "ENSP00000325527.5",
"transcript_support_level": 1,
"aa_start": 1463,
"aa_end": null,
"aa_length": 2871,
"cds_start": 4388,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 4704,
"cdna_end": null,
"cdna_length": 11609,
"mane_select": "NM_000138.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316623.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.4388A>G",
"hgvs_p": null,
"transcript": "ENST00000559133.6",
"protein_id": "ENSP00000453958.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9910,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559133.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.4388A>G",
"hgvs_p": "p.Asn1463Ser",
"transcript": "NM_001406716.1",
"protein_id": "NP_001393645.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 2871,
"cds_start": 4388,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 4589,
"cdna_end": null,
"cdna_length": 11494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406716.1"
},
{
"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": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.*151A>G",
"hgvs_p": null,
"transcript": "ENST00000537463.6",
"protein_id": "ENSP00000440294.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537463.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.4388A>G",
"hgvs_p": null,
"transcript": "ENST00000674301.2",
"protein_id": "ENSP00000501333.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8995,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674301.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.355A>G",
"hgvs_p": null,
"transcript": "ENST00000683268.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.3062A>G",
"hgvs_p": null,
"transcript": "ENST00000684448.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684448.1"
},
{
"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": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.*151A>G",
"hgvs_p": null,
"transcript": "ENST00000537463.6",
"protein_id": "ENSP00000440294.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537463.6"
}
],
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"dbsnp": "rs1555397413",
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9931122064590454,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.959,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7999,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000138.5",
"gene_symbol": "FBN1",
"hgnc_id": 3603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.4388A>G",
"hgvs_p": "p.Asn1463Ser"
}
],
"clinvar_disease": "8 conditions,Disproportionate tall stature,Familial thoracic aortic aneurysm and aortic dissection,High palate,Lumbar scoliosis,Mitral valve prolapse,Myxomatous mitral valve degeneration,Progeroid and marfanoid aspect-lipodystrophy syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:2",
"phenotype_combined": "Mitral valve prolapse;Lumbar scoliosis;Myxomatous mitral valve degeneration;High palate;Disproportionate tall stature|Familial thoracic aortic aneurysm and aortic dissection|Progeroid and marfanoid aspect-lipodystrophy syndrome|not provided|8 conditions",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}