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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: 1-25972602-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25972602&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25972602,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000437.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "NM_000437.4",
"protein_id": "NP_000428.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": "ENST00000374282.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000437.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000374282.8",
"protein_id": "ENSP00000363400.3",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": "NM_000437.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374282.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000374284.5",
"protein_id": "ENSP00000363402.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374284.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1061A>G",
"hgvs_p": "p.Glu354Gly",
"transcript": "ENST00000872706.1",
"protein_id": "ENSP00000542765.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 399,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872706.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1055A>G",
"hgvs_p": "p.Glu352Gly",
"transcript": "ENST00000872707.1",
"protein_id": "ENSP00000542766.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 397,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872707.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000872702.1",
"protein_id": "ENSP00000542761.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872702.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000872708.1",
"protein_id": "ENSP00000542767.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872708.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000872709.1",
"protein_id": "ENSP00000542768.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872709.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000872710.1",
"protein_id": "ENSP00000542769.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872710.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000931127.1",
"protein_id": "ENSP00000601186.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931127.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000931128.1",
"protein_id": "ENSP00000601187.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931128.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000942550.1",
"protein_id": "ENSP00000612609.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942550.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "ENST00000942551.1",
"protein_id": "ENSP00000612610.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942551.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1031A>G",
"hgvs_p": "p.Glu344Gly",
"transcript": "ENST00000872703.1",
"protein_id": "ENSP00000542762.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 389,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872703.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1031A>G",
"hgvs_p": "p.Glu344Gly",
"transcript": "ENST00000872705.1",
"protein_id": "ENSP00000542764.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 389,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872705.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.926A>G",
"hgvs_p": "p.Glu309Gly",
"transcript": "ENST00000872704.1",
"protein_id": "ENSP00000542763.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 354,
"cds_start": 926,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872704.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1112A>G",
"hgvs_p": "p.Glu371Gly",
"transcript": "XM_011541528.3",
"protein_id": "XP_011539830.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 416,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541528.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1112A>G",
"hgvs_p": "p.Glu371Gly",
"transcript": "XM_047421698.1",
"protein_id": "XP_047277654.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 416,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421698.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "XM_006710670.4",
"protein_id": "XP_006710733.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710670.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.677A>G",
"hgvs_p": "p.Glu226Gly",
"transcript": "XM_047421700.1",
"protein_id": "XP_047277656.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 271,
"cds_start": 677,
"cds_end": null,
"cds_length": 816,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421700.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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.677A>G",
"hgvs_p": "p.Glu226Gly",
"transcript": "XM_047421701.1",
"protein_id": "XP_047277657.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 271,
"cds_start": 677,
"cds_end": null,
"cds_length": 816,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421701.1"
}
],
"gene_symbol": "PAFAH2",
"gene_hgnc_id": 8579,
"dbsnp": "rs746569022",
"frequency_reference_population": 0.000003098358,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273661,
"gnomad_genomes_af": 0.00000657479,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6144111752510071,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.0991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000437.4",
"gene_symbol": "PAFAH2",
"hgnc_id": 8579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Glu347Gly"
}
],
"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
}