← 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: 8-144318103-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144318103&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144318103,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012079.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "NM_012079.6",
"protein_id": "NP_036211.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 488,
"cds_start": 743,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000528718.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012079.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000528718.6",
"protein_id": "ENSP00000482264.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 488,
"cds_start": 743,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012079.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528718.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Thr257Ser",
"transcript": "ENST00000875296.1",
"protein_id": "ENSP00000545355.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 497,
"cds_start": 770,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875296.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000875297.1",
"protein_id": "ENSP00000545356.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 493,
"cds_start": 743,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875297.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000920393.1",
"protein_id": "ENSP00000590452.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 487,
"cds_start": 743,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920393.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000920392.1",
"protein_id": "ENSP00000590451.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 484,
"cds_start": 743,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920392.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000875294.1",
"protein_id": "ENSP00000545353.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 476,
"cds_start": 743,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875294.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000875295.1",
"protein_id": "ENSP00000545354.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 461,
"cds_start": 743,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875295.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000875293.1",
"protein_id": "ENSP00000545352.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 455,
"cds_start": 743,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875293.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Thr214Ser",
"transcript": "ENST00000965791.1",
"protein_id": "ENSP00000635850.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 454,
"cds_start": 641,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965791.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.614C>G",
"hgvs_p": "p.Thr205Ser",
"transcript": "ENST00000965792.1",
"protein_id": "ENSP00000635851.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 445,
"cds_start": 614,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965792.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Thr191Ser",
"transcript": "XM_011517356.4",
"protein_id": "XP_011515658.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 431,
"cds_start": 572,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517356.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.563C>G",
"hgvs_p": "p.Thr188Ser",
"transcript": "XM_047422387.1",
"protein_id": "XP_047278343.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 428,
"cds_start": 563,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422387.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.461C>G",
"hgvs_p": "p.Thr154Ser",
"transcript": "XM_047422388.1",
"protein_id": "XP_047278344.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 394,
"cds_start": 461,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422388.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.461C>G",
"hgvs_p": "p.Thr154Ser",
"transcript": "XM_047422389.1",
"protein_id": "XP_047278345.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 394,
"cds_start": 461,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "c.676+158C>G",
"hgvs_p": null,
"transcript": "ENST00000332324.5",
"protein_id": "ENSP00000332258.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332324.5"
},
{
"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": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.128C>G",
"hgvs_p": null,
"transcript": "ENST00000524844.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000524844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.301C>G",
"hgvs_p": null,
"transcript": "ENST00000524965.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524965.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.831C>G",
"hgvs_p": null,
"transcript": "ENST00000525371.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525371.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"hgvs_c": "n.872C>G",
"hgvs_p": null,
"transcript": "ENST00000531896.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531896.5"
}
],
"gene_symbol": "DGAT1",
"gene_hgnc_id": 2843,
"dbsnp": "rs55962377",
"frequency_reference_population": 0.0000013034122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.23542e-7,
"gnomad_genomes_af": 0.00000656409,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27985137701034546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0917,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.257,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012079.6",
"gene_symbol": "DGAT1",
"hgnc_id": 2843,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}