← 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: 2-85666649-G-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85666649&ref=G&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85666649,
"ref": "G",
"alt": "TTC",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000519937.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "NM_000542.5",
"protein_id": "NP_000533.4",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 381,
"cds_start": 361,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": "ENST00000519937.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "ENST00000519937.7",
"protein_id": "ENSP00000428719.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 381,
"cds_start": 361,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": "NM_000542.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "ENST00000393822.7",
"protein_id": "ENSP00000377409.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 381,
"cds_start": 361,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "ENST00000409383.7",
"protein_id": "ENSP00000386346.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 381,
"cds_start": 361,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "NM_198843.3",
"protein_id": "NP_942140.3",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 381,
"cds_start": 361,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.349delCinsGAA",
"hgvs_p": "p.Pro117fs",
"transcript": "ENST00000428225.5",
"protein_id": "ENSP00000415347.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 373,
"cds_start": 349,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "NM_001367281.1",
"protein_id": "NP_001354210.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 358,
"cds_start": 361,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.397delCinsGAA",
"hgvs_p": "p.Pro133fs",
"transcript": "XM_047445414.1",
"protein_id": "XP_047301370.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 393,
"cds_start": 397,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "XM_005264488.5",
"protein_id": "XP_005264545.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 377,
"cds_start": 361,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "XM_047445415.1",
"protein_id": "XP_047301371.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 377,
"cds_start": 361,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs",
"transcript": "XM_005264490.5",
"protein_id": "XP_005264547.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 339,
"cds_start": 361,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1269,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "n.367delCinsGAA",
"hgvs_p": null,
"transcript": "ENST00000473692.1",
"protein_id": null,
"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": 481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"dbsnp": "rs35328240",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.611,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000519937.7",
"gene_symbol": "SFTPB",
"hgnc_id": 10801,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.361delCinsGAA",
"hgvs_p": "p.Pro121fs"
}
],
"clinvar_disease": " 1, pulmonary,Hereditary pulmonary alveolar proteinosis,SFTPB-related disorder,Surfactant metabolism dysfunction,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Surfactant metabolism dysfunction, pulmonary, 1|not provided|SFTPB-related disorder|Hereditary pulmonary alveolar proteinosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}