← 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: 1-165743263-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=165743263&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 165743263,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000367881.11",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.372C>T",
"hgvs_p": "p.Tyr124Tyr",
"transcript": "NM_019026.6",
"protein_id": "NP_061899.3",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 372,
"cds_end": null,
"cds_length": 567,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": "ENST00000367881.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.372C>T",
"hgvs_p": "p.Tyr124Tyr",
"transcript": "ENST00000367881.11",
"protein_id": "ENSP00000356856.6",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 372,
"cds_end": null,
"cds_length": 567,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": "NM_019026.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Tyr175Tyr",
"transcript": "ENST00000612311.4",
"protein_id": "ENSP00000480514.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 239,
"cds_start": 525,
"cds_end": null,
"cds_length": 720,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.423C>T",
"hgvs_p": "p.Tyr141Tyr",
"transcript": "NM_001256164.1",
"protein_id": "NP_001243093.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 205,
"cds_start": 423,
"cds_end": null,
"cds_length": 618,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 4368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Tyr112Tyr",
"transcript": "NM_001256165.1",
"protein_id": "NP_001243094.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 176,
"cds_start": 336,
"cds_end": null,
"cds_length": 531,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Tyr112Tyr",
"transcript": "ENST00000481278.6",
"protein_id": "ENSP00000462300.2",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 176,
"cds_start": 336,
"cds_end": null,
"cds_length": 531,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.120C>T",
"hgvs_p": "p.Tyr40Tyr",
"transcript": "ENST00000464650.5",
"protein_id": "ENSP00000463951.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 104,
"cds_start": 120,
"cds_end": null,
"cds_length": 315,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "c.120C>T",
"hgvs_p": "p.Tyr40Tyr",
"transcript": "ENST00000580248.5",
"protein_id": "ENSP00000462588.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 104,
"cds_start": 120,
"cds_end": null,
"cds_length": 315,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.*203C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.*162C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.466C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.*203C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"hgvs_c": "n.*162C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMCO1",
"gene_hgnc_id": 18188,
"dbsnp": "rs1553249737",
"frequency_reference_population": 6.847561e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84756e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.781,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367881.11",
"gene_symbol": "TMCO1",
"hgnc_id": 18188,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.372C>T",
"hgvs_p": "p.Tyr124Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}