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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: 1-165768199-ACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=165768199&ref=ACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 165768199,
"ref": "ACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001256164.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.139_140delAG",
"hgvs_p": "p.Ser47fs",
"transcript": "NM_019026.6",
"protein_id": "NP_061899.3",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 188,
"cds_start": 139,
"cds_end": null,
"cds_length": 567,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": "ENST00000367881.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019026.6"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.139_140delAG",
"hgvs_p": "p.Ser47fs",
"transcript": "ENST00000367881.11",
"protein_id": "ENSP00000356856.6",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 188,
"cds_start": 139,
"cds_end": null,
"cds_length": 567,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": "NM_019026.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367881.11"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.292_293delAG",
"hgvs_p": "p.Ser98fs",
"transcript": "ENST00000612311.4",
"protein_id": "ENSP00000480514.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 239,
"cds_start": 292,
"cds_end": null,
"cds_length": 720,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612311.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.139_140delAG",
"hgvs_p": "p.Ser47fs",
"transcript": "ENST00000868463.1",
"protein_id": "ENSP00000538522.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 229,
"cds_start": 139,
"cds_end": null,
"cds_length": 690,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868463.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.139_140delAG",
"hgvs_p": "p.Ser47fs",
"transcript": "ENST00000868461.1",
"protein_id": "ENSP00000538520.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 209,
"cds_start": 139,
"cds_end": null,
"cds_length": 630,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868461.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.190_191delAG",
"hgvs_p": "p.Ser64fs",
"transcript": "NM_001256164.1",
"protein_id": "NP_001243093.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 205,
"cds_start": 190,
"cds_end": null,
"cds_length": 618,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 4368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256164.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.139_140delAG",
"hgvs_p": "p.Ser47fs",
"transcript": "ENST00000868462.1",
"protein_id": "ENSP00000538521.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 185,
"cds_start": 139,
"cds_end": null,
"cds_length": 558,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868462.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.103_104delAG",
"hgvs_p": "p.Ser35fs",
"transcript": "NM_001256165.1",
"protein_id": "NP_001243094.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 176,
"cds_start": 103,
"cds_end": null,
"cds_length": 531,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256165.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.103_104delAG",
"hgvs_p": "p.Ser35fs",
"transcript": "ENST00000481278.6",
"protein_id": "ENSP00000462300.2",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 176,
"cds_start": 103,
"cds_end": null,
"cds_length": 531,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481278.6"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.292_293delAG",
"hgvs_p": "p.Ser98fs",
"transcript": "ENST00000628579.1",
"protein_id": "ENSP00000485789.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 152,
"cds_start": 292,
"cds_end": null,
"cds_length": 459,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.-114_-113delAG",
"hgvs_p": null,
"transcript": "ENST00000464650.5",
"protein_id": "ENSP00000463951.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464650.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.-114_-113delAG",
"hgvs_p": null,
"transcript": "ENST00000580248.5",
"protein_id": "ENSP00000462588.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580248.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.139_140delAG",
"hgvs_p": null,
"transcript": "ENST00000465705.4",
"protein_id": "ENSP00000463105.2",
"transcript_support_level": 5,
"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": 760,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465705.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.139_140delAG",
"hgvs_p": null,
"transcript": "ENST00000476143.7",
"protein_id": "ENSP00000464127.2",
"transcript_support_level": 3,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476143.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.233_234delAG",
"hgvs_p": null,
"transcript": "NR_045818.1",
"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": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045818.1"
}
],
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"dbsnp": "rs752176040",
"frequency_reference_population": 0.00025544464,
"hom_count_reference_population": 0,
"allele_count_reference_population": 412,
"gnomad_exomes_af": 0.000255958,
"gnomad_genomes_af": 0.000250498,
"gnomad_exomes_ac": 374,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.863,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001256164.1",
"gene_symbol": "TMCO1",
"hgnc_id": 18188,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.190_191delAG",
"hgvs_p": "p.Ser64fs"
}
],
"clinvar_disease": " and impaired intellectual development 1, skeletal anomalies,Craniofacial dysmorphism,Inborn genetic diseases,TMCO1-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:1",
"phenotype_combined": "not provided|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1|Inborn genetic diseases|TMCO1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}