← 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: 2-197400047-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197400047&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197400047,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_012433.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3013+8A>G",
"hgvs_p": null,
"transcript": "NM_012433.4",
"protein_id": "NP_036565.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": null,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335508.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012433.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3013+8A>G",
"hgvs_p": null,
"transcript": "ENST00000335508.11",
"protein_id": "ENSP00000335321.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": null,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012433.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335508.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3010+8A>G",
"hgvs_p": null,
"transcript": "ENST00000929354.1",
"protein_id": "ENSP00000599413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": null,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2932+8A>G",
"hgvs_p": null,
"transcript": "ENST00000929356.1",
"protein_id": "ENSP00000599415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1277,
"cds_start": null,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3013+8A>G",
"hgvs_p": null,
"transcript": "ENST00000929355.1",
"protein_id": "ENSP00000599414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": null,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2842+8A>G",
"hgvs_p": null,
"transcript": "ENST00000963258.1",
"protein_id": "ENSP00000633317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1247,
"cds_start": null,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2647+8A>G",
"hgvs_p": null,
"transcript": "ENST00000963259.1",
"protein_id": "ENSP00000633318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": null,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2140+8A>G",
"hgvs_p": null,
"transcript": "ENST00000963257.1",
"protein_id": "ENSP00000633316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1013,
"cds_start": null,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2575+8A>G",
"hgvs_p": null,
"transcript": "XM_047443838.1",
"protein_id": "XP_047299794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": null,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2575+8A>G",
"hgvs_p": null,
"transcript": "XM_047443839.1",
"protein_id": "XP_047299795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": null,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3013+8A>G",
"hgvs_p": null,
"transcript": "XM_047443840.1",
"protein_id": "XP_047299796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": null,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.4897+8A>G",
"hgvs_p": null,
"transcript": "ENST00000470268.2",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470268.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*4080+8A>G",
"hgvs_p": null,
"transcript": "ENST00000652026.1",
"protein_id": "ENSP00000498652.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*3272+8A>G",
"hgvs_p": null,
"transcript": "ENST00000652738.1",
"protein_id": "ENSP00000499119.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652738.1"
}
],
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"dbsnp": "rs202052494",
"frequency_reference_population": 0.000089583096,
"hom_count_reference_population": 0,
"allele_count_reference_population": 139,
"gnomad_exomes_af": 0.0000950246,
"gnomad_genomes_af": 0.0000394752,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.026,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000293112871372549,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012433.4",
"gene_symbol": "SF3B1",
"hgnc_id": 10768,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3013+8A>G",
"hgvs_p": null
}
],
"clinvar_disease": "SF3B1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SF3B1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}