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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: 10-110601015-GTTACAGGAACT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110601015&ref=GTTACAGGAACT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110601015,
"ref": "GTTACAGGAACT",
"alt": "G",
"effect": "splice_acceptor_variant,conservative_inframe_deletion,splice_region_variant,intron_variant",
"transcript": "NM_005445.4",
"consequences": [
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2536-5_2541delTACAGGAACTT",
"hgvs_p": "p.Glu846_Asn848del",
"transcript": "NM_005445.4",
"protein_id": "NP_005436.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361804.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005445.4"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2536-5_2541delTACAGGAACTT",
"hgvs_p": "p.Glu846_Asn848del",
"transcript": "ENST00000361804.5",
"protein_id": "ENSP00000354720.5",
"transcript_support_level": 1,
"aa_start": 846,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005445.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361804.5"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2560-5_2565delTACAGGAACTT",
"hgvs_p": "p.Glu854_Asn856del",
"transcript": "ENST00000918257.1",
"protein_id": "ENSP00000588316.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918257.1"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2554-5_2559delTACAGGAACTT",
"hgvs_p": "p.Glu852_Asn854del",
"transcript": "ENST00000966376.1",
"protein_id": "ENSP00000636435.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966376.1"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2536-5_2541delTACAGGAACTT",
"hgvs_p": "p.Glu846_Asn848del",
"transcript": "ENST00000966377.1",
"protein_id": "ENSP00000636436.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966377.1"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2497-5_2502delTACAGGAACTT",
"hgvs_p": "p.Glu833_Asn835del",
"transcript": "ENST00000918255.1",
"protein_id": "ENSP00000588314.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918255.1"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2455-5_2460delTACAGGAACTT",
"hgvs_p": "p.Glu819_Asn821del",
"transcript": "ENST00000918258.1",
"protein_id": "ENSP00000588317.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918258.1"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2536-5_2541delTACAGGAACTT",
"hgvs_p": "p.Glu846_Asn848del",
"transcript": "ENST00000918256.1",
"protein_id": "ENSP00000588315.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918256.1"
},
{
"aa_ref": "QEL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "c.2035-5_2040delTACAGGAACTT",
"hgvs_p": "p.Glu679_Asn681del",
"transcript": "ENST00000901787.1",
"protein_id": "ENSP00000571846.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "n.1733_1743delTACAGGAACTT",
"hgvs_p": null,
"transcript": "ENST00000685743.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000685743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "n.1494_1504delTACAGGAACTT",
"hgvs_p": null,
"transcript": "ENST00000689321.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "n.4769-5_4774delTACAGGAACTT",
"hgvs_p": null,
"transcript": "ENST00000684988.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "n.887-5_892delTACAGGAACTT",
"hgvs_p": null,
"transcript": "ENST00000686057.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"hgvs_c": "n.325-5_330delTACAGGAACTT",
"hgvs_p": null,
"transcript": "ENST00000689986.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000689986.1"
}
],
"gene_symbol": "SMC3",
"gene_hgnc_id": 2468,
"dbsnp": "rs727503775",
"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": 9.527,
"phylop100way_prediction": "Pathogenic",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005445.4",
"gene_symbol": "SMC3",
"hgnc_id": 2468,
"effects": [
"splice_acceptor_variant",
"conservative_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2536-5_2541delTACAGGAACTT",
"hgvs_p": "p.Glu846_Asn848del"
}
],
"clinvar_disease": "Cornelia de Lange syndrome 3,Wiedemann-Steiner syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cornelia de Lange syndrome 3;Wiedemann-Steiner syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}