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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: 1-67093186-CTCATT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67093186&ref=CTCATT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 67093186,
"ref": "CTCATT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001276351.2",
"consequences": [
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1017_1021delAATGA",
"hgvs_p": "p.Met340fs",
"transcript": "NM_001276351.2",
"protein_id": "NP_001263280.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 400,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684719.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276351.2"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1017_1021delAATGA",
"hgvs_p": "p.Met340fs",
"transcript": "ENST00000684719.1",
"protein_id": "ENSP00000507487.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 400,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276351.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "n.*829_*833delAATGA",
"hgvs_p": null,
"transcript": "ENST00000544837.5",
"protein_id": "ENSP00000444018.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544837.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "n.*829_*833delAATGA",
"hgvs_p": null,
"transcript": "ENST00000544837.5",
"protein_id": "ENSP00000444018.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544837.5"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1017_1021delAATGA",
"hgvs_p": "p.Met340fs",
"transcript": "ENST00000371006.5",
"protein_id": "ENSP00000360045.1",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 400,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371006.5"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1017_1021delAATGA",
"hgvs_p": "p.Met340fs",
"transcript": "ENST00000371007.6",
"protein_id": "ENSP00000360046.1",
"transcript_support_level": 5,
"aa_start": 339,
"aa_end": null,
"aa_length": 400,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371007.6"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1230_1234delAATGA",
"hgvs_p": "p.Met411fs",
"transcript": "XM_011541465.3",
"protein_id": "XP_011539767.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541465.3"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1230_1234delAATGA",
"hgvs_p": "p.Met411fs",
"transcript": "XM_011541466.3",
"protein_id": "XP_011539768.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541466.3"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1230_1234delAATGA",
"hgvs_p": "p.Met411fs",
"transcript": "XM_017001276.2",
"protein_id": "XP_016856765.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001276.2"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.1191_1195delAATGA",
"hgvs_p": "p.Met398fs",
"transcript": "XM_011541467.2",
"protein_id": "XP_011539769.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 458,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541467.2"
},
{
"aa_ref": "EMS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.816_820delAATGA",
"hgvs_p": "p.Met273fs",
"transcript": "XM_011541469.2",
"protein_id": "XP_011539771.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 333,
"cds_start": 816,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541469.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.*389_*393delAATGA",
"hgvs_p": null,
"transcript": "NM_001276352.2",
"protein_id": "NP_001263281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.*389_*393delAATGA",
"hgvs_p": null,
"transcript": "ENST00000475209.6",
"protein_id": "ENSP00000432856.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475209.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "c.*3121_*3125delAATGA",
"hgvs_p": null,
"transcript": "ENST00000621590.4",
"protein_id": "ENSP00000481294.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621590.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "n.3508_3512delAATGA",
"hgvs_p": null,
"transcript": "ENST00000371004.6",
"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": "ENST00000371004.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"hgvs_c": "n.1330_1334delAATGA",
"hgvs_p": null,
"transcript": "NR_075077.2",
"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": "NR_075077.2"
}
],
"gene_symbol": "C1orf141",
"gene_hgnc_id": 32044,
"dbsnp": "rs200104842",
"frequency_reference_population": 0.0091088675,
"hom_count_reference_population": 79,
"allele_count_reference_population": 14700,
"gnomad_exomes_af": 0.00934313,
"gnomad_genomes_af": 0.00685922,
"gnomad_exomes_ac": 13656,
"gnomad_genomes_ac": 1044,
"gnomad_exomes_homalt": 71,
"gnomad_genomes_homalt": 8,
"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": 2.129,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001276351.2",
"gene_symbol": "C1orf141",
"hgnc_id": 32044,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1017_1021delAATGA",
"hgvs_p": "p.Met340fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}