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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: 1-25972579-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25972579&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25972579,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000437.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "NM_000437.4",
"protein_id": "NP_000428.2",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374282.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000437.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000374282.8",
"protein_id": "ENSP00000363400.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000437.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374282.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000374284.5",
"protein_id": "ENSP00000363402.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374284.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Ala362Thr",
"transcript": "ENST00000872706.1",
"protein_id": "ENSP00000542765.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 399,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872706.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "ENST00000872707.1",
"protein_id": "ENSP00000542766.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 397,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872707.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000872702.1",
"protein_id": "ENSP00000542761.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872702.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000872708.1",
"protein_id": "ENSP00000542767.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872708.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000872709.1",
"protein_id": "ENSP00000542768.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872709.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000872710.1",
"protein_id": "ENSP00000542769.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872710.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000931127.1",
"protein_id": "ENSP00000601186.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931127.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000931128.1",
"protein_id": "ENSP00000601187.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931128.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000942550.1",
"protein_id": "ENSP00000612609.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942550.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000942551.1",
"protein_id": "ENSP00000612610.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942551.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "ENST00000872703.1",
"protein_id": "ENSP00000542762.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 389,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872703.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "ENST00000872705.1",
"protein_id": "ENSP00000542764.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 389,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872705.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Ala317Thr",
"transcript": "ENST00000872704.1",
"protein_id": "ENSP00000542763.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 354,
"cds_start": 949,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872704.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"transcript": "XM_011541528.3",
"protein_id": "XP_011539830.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 416,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541528.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"transcript": "XM_047421698.1",
"protein_id": "XP_047277654.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 416,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421698.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "XM_006710670.4",
"protein_id": "XP_006710733.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710670.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Ala234Thr",
"transcript": "XM_047421700.1",
"protein_id": "XP_047277656.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 271,
"cds_start": 700,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421700.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Ala234Thr",
"transcript": "XM_047421701.1",
"protein_id": "XP_047277657.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 271,
"cds_start": 700,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421701.1"
}
],
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"dbsnp": "rs368554103",
"frequency_reference_population": 0.00012270258,
"hom_count_reference_population": 0,
"allele_count_reference_population": 198,
"gnomad_exomes_af": 0.000130693,
"gnomad_genomes_af": 0.0000459873,
"gnomad_exomes_ac": 191,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7540386915206909,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.2572,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.067,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000437.4",
"gene_symbol": "PAFAH2",
"hgnc_id": 8579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr"
}
],
"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
}