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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: 1-165743252-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=165743252&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMCO1",
"hgnc_id": 18188,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Leu145Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001256164.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 21,
"alphamissense_prediction": null,
"alphamissense_score": 0.9934,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9386017322540283,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 188,
"aa_ref": "L",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 500,
"cds_end": null,
"cds_length": 567,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_019026.6",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Leu128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367881.11",
"protein_coding": true,
"protein_id": "NP_061899.3",
"strand": false,
"transcript": "NM_019026.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 188,
"aa_ref": "L",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 500,
"cds_end": null,
"cds_length": 567,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367881.11",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Leu128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019026.6",
"protein_coding": true,
"protein_id": "ENSP00000356856.6",
"strand": false,
"transcript": "ENST00000367881.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4468,
"cdna_start": 554,
"cds_end": null,
"cds_length": 720,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000612311.4",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.536T>C",
"hgvs_p": "p.Leu179Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480514.1",
"strand": false,
"transcript": "ENST00000612311.4",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 229,
"aa_ref": "L",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 631,
"cds_end": null,
"cds_length": 690,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868463.1",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Leu169Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538522.1",
"strand": false,
"transcript": "ENST00000868463.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 209,
"aa_ref": "L",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": 486,
"cds_end": null,
"cds_length": 630,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868461.1",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Leu128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538520.1",
"strand": false,
"transcript": "ENST00000868461.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 205,
"aa_ref": "L",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4368,
"cdna_start": 452,
"cds_end": null,
"cds_length": 618,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256164.1",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Leu145Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243093.1",
"strand": false,
"transcript": "NM_001256164.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 185,
"aa_ref": "L",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 500,
"cds_end": null,
"cds_length": 558,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868462.1",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Leu128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538521.1",
"strand": false,
"transcript": "ENST00000868462.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "L",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": 754,
"cds_end": null,
"cds_length": 531,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256165.1",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Leu116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243094.1",
"strand": false,
"transcript": "NM_001256165.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "L",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 669,
"cds_end": null,
"cds_length": 531,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000481278.6",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Leu116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462300.2",
"strand": false,
"transcript": "ENST00000481278.6",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 104,
"aa_ref": "L",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 431,
"cds_end": null,
"cds_length": 315,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000464650.5",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Leu44Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463951.1",
"strand": false,
"transcript": "ENST00000464650.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 104,
"aa_ref": "L",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 834,
"cds_end": null,
"cds_length": 315,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000580248.5",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Leu44Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462588.1",
"strand": false,
"transcript": "ENST00000580248.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000465705.4",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "n.*214T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463105.2",
"strand": false,
"transcript": "ENST00000465705.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000476143.7",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "n.*173T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464127.2",
"strand": false,
"transcript": "ENST00000476143.7",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_045818.1",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "n.477T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_045818.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000465705.4",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "n.*214T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463105.2",
"strand": false,
"transcript": "ENST00000465705.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000476143.7",
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"hgvs_c": "n.*173T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464127.2",
"strand": false,
"transcript": "ENST00000476143.7",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780554889",
"effect": "missense_variant",
"frequency_reference_population": 0.000013012507,
"gene_hgnc_id": 18188,
"gene_symbol": "TMCO1",
"gnomad_exomes_ac": 20,
"gnomad_exomes_af": 0.0000136823,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657497,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.817,
"pos": 165743252,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.702,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001256164.1"
}
]
}