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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: 17-81510705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81510705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81510705,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001614.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "NM_001614.5",
"protein_id": "NP_001605.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": "ENST00000573283.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000573283.7",
"protein_id": "ENSP00000458435.1",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": "NM_001614.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000575842.5",
"protein_id": "ENSP00000458162.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000615544.5",
"protein_id": "ENSP00000477968.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1895,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1513C>T",
"hgvs_p": null,
"transcript": "ENST00000574671.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2241,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.998C>T",
"hgvs_p": null,
"transcript": "ENST00000576209.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "NM_001199954.3",
"protein_id": "NP_001186883.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000570382.2",
"protein_id": "ENSP00000466346.2",
"transcript_support_level": 4,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000571721.6",
"protein_id": "ENSP00000460660.2",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000575087.5",
"protein_id": "ENSP00000459124.1",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000575659.6",
"protein_id": "ENSP00000459119.2",
"transcript_support_level": 3,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000575994.6",
"protein_id": "ENSP00000460464.2",
"transcript_support_level": 3,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 1340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000679480.1",
"protein_id": "ENSP00000506201.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His",
"transcript": "ENST00000681052.1",
"protein_id": "ENSP00000505060.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1086C>T",
"hgvs_p": "p.His362His",
"transcript": "ENST00000644774.2",
"protein_id": "ENSP00000493648.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 366,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.1041C>T",
"hgvs_p": "p.His347His",
"transcript": "ENST00000571691.6",
"protein_id": "ENSP00000461407.2",
"transcript_support_level": 3,
"aa_start": 347,
"aa_end": null,
"aa_length": 351,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1128,
"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": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.*557C>T",
"hgvs_p": null,
"transcript": "ENST00000572105.7",
"protein_id": "ENSP00000462823.1",
"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": 2005,
"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": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1414C>T",
"hgvs_p": null,
"transcript": "ENST00000576214.3",
"protein_id": null,
"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": 1993,
"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": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1113C>T",
"hgvs_p": null,
"transcript": "ENST00000576544.6",
"protein_id": "ENSP00000461672.1",
"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": 1880,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1245C>T",
"hgvs_p": null,
"transcript": "ENST00000576917.5",
"protein_id": null,
"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": 1958,
"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": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1316C>T",
"hgvs_p": null,
"transcript": "ENST00000679410.1",
"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": 1895,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1414C>T",
"hgvs_p": null,
"transcript": "ENST00000679535.1",
"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": 2141,
"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": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1113C>T",
"hgvs_p": null,
"transcript": "ENST00000679778.1",
"protein_id": "ENSP00000505235.1",
"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,
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}
],
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"dbsnp": "rs117765323",
"frequency_reference_population": 0.00023356872,
"hom_count_reference_population": 1,
"allele_count_reference_population": 377,
"gnomad_exomes_af": 0.000218231,
"gnomad_genomes_af": 0.000380752,
"gnomad_exomes_ac": 319,
"gnomad_genomes_ac": 58,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.854,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001614.5",
"gene_symbol": "ACTG1",
"hgnc_id": 144,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.His371His"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 20,Baraitser-winter syndrome 2,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "not provided|Autosomal dominant nonsyndromic hearing loss 20;Baraitser-winter syndrome 2|Autosomal dominant nonsyndromic hearing loss 20|not specified|Baraitser-winter syndrome 2",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}