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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: 6-52503222-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52503222&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52503222,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012288.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "NM_012288.4",
"protein_id": "NP_036420.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 370,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000182527.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012288.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000182527.4",
"protein_id": "ENSP00000182527.3",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 370,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012288.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000182527.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000956692.1",
"protein_id": "ENSP00000626751.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 403,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956692.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "ENST00000956690.1",
"protein_id": "ENSP00000626749.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 371,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956690.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "ENST00000912004.1",
"protein_id": "ENSP00000582063.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 369,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912004.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360Gln",
"transcript": "ENST00000863425.1",
"protein_id": "ENSP00000533484.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 367,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863425.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Gln",
"transcript": "ENST00000863427.1",
"protein_id": "ENSP00000533486.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 359,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863427.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000863426.1",
"protein_id": "ENSP00000533485.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 335,
"cds_start": 983,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863426.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324Gln",
"transcript": "ENST00000956694.1",
"protein_id": "ENSP00000626753.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 331,
"cds_start": 971,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956694.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"transcript": "ENST00000956695.1",
"protein_id": "ENSP00000626754.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 292,
"cds_start": 854,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956695.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "ENST00000956693.1",
"protein_id": "ENSP00000626752.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 287,
"cds_start": 839,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956693.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000956691.1",
"protein_id": "ENSP00000626750.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 273,
"cds_start": 797,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956691.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "ENST00000912005.1",
"protein_id": "ENSP00000582064.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 235,
"cds_start": 683,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912005.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_011515005.3",
"protein_id": "XP_011513307.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 333,
"cds_start": 977,
"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_011515005.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1851+12872C>T",
"hgvs_p": null,
"transcript": "ENST00000637353.1",
"protein_id": "ENSP00000490441.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637353.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1516-12673C>T",
"hgvs_p": null,
"transcript": "ENST00000636343.1",
"protein_id": "ENSP00000490193.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.*1552+12872C>T",
"hgvs_p": null,
"transcript": "ENST00000637602.1",
"protein_id": "ENSP00000490074.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000637602.1"
}
],
"gene_symbol": "TRAM2",
"gene_hgnc_id": 16855,
"dbsnp": "rs1160106138",
"frequency_reference_population": 0.0000041043713,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410437,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6169397234916687,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.4743,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.17,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_012288.4",
"gene_symbol": "TRAM2",
"hgnc_id": 16855,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000637602.1",
"gene_symbol": "EFHC1",
"hgnc_id": 16406,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.*1552+12872C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}