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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: 1-173909700-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173909700&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173909700,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000367698.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Val335Val",
"transcript": "NM_000488.4",
"protein_id": "NP_000479.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 464,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": "ENST00000367698.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Val335Val",
"transcript": "ENST00000367698.4",
"protein_id": "ENSP00000356671.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 464,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": "NM_000488.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1128G>A",
"hgvs_p": "p.Val376Val",
"transcript": "NM_001386302.1",
"protein_id": "NP_001373231.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 505,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Val362Val",
"transcript": "NM_001386303.1",
"protein_id": "NP_001373232.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 491,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Val328Val",
"transcript": "NM_001386304.1",
"protein_id": "NP_001373233.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 457,
"cds_start": 984,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001386305.1",
"protein_id": "NP_001373234.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 445,
"cds_start": 948,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Val287Val",
"transcript": "NM_001365052.2",
"protein_id": "NP_001351981.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 416,
"cds_start": 861,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Val263Val",
"transcript": "NM_001386306.1",
"protein_id": "NP_001373235.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 392,
"cds_start": 789,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "n.*30G>A",
"hgvs_p": null,
"transcript": "ENST00000487183.1",
"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": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"dbsnp": "rs192187532",
"frequency_reference_population": 0.00027879313,
"hom_count_reference_population": 3,
"allele_count_reference_population": 450,
"gnomad_exomes_af": 0.000262016,
"gnomad_genomes_af": 0.000439754,
"gnomad_exomes_ac": 383,
"gnomad_genomes_ac": 67,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.453,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2_Supporting",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000367698.4",
"gene_symbol": "SERPINC1",
"hgnc_id": 775,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Val335Val"
}
],
"clinvar_disease": "Hereditary antithrombin deficiency,SERPINC1-related disorder",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Hereditary antithrombin deficiency|SERPINC1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}