← 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: 1-173903968-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173903968&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINC1",
"hgnc_id": 775,
"hgvs_c": "c.1439C>A",
"hgvs_p": "p.Pro480His",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001386302.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8304,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9918737411499023,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000488.4",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1316C>A",
"hgvs_p": "p.Pro439His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367698.4",
"protein_coding": true,
"protein_id": "NP_000479.1",
"strand": false,
"transcript": "NM_000488.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367698.4",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1316C>A",
"hgvs_p": "p.Pro439His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000488.4",
"protein_coding": true,
"protein_id": "ENSP00000356671.3",
"strand": false,
"transcript": "ENST00000367698.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 507,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874328.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1445C>A",
"hgvs_p": "p.Pro482His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544387.1",
"strand": false,
"transcript": "ENST00000874328.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 505,
"aa_ref": "P",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001386302.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1439C>A",
"hgvs_p": "p.Pro480His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373231.1",
"strand": false,
"transcript": "NM_001386302.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 505,
"aa_ref": "P",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874324.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1439C>A",
"hgvs_p": "p.Pro480His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544383.1",
"strand": false,
"transcript": "ENST00000874324.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 497,
"aa_ref": "P",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874326.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1415C>A",
"hgvs_p": "p.Pro472His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544385.1",
"strand": false,
"transcript": "ENST00000874326.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 491,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001386303.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1397C>A",
"hgvs_p": "p.Pro466His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373232.1",
"strand": false,
"transcript": "NM_001386303.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 491,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874327.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1397C>A",
"hgvs_p": "p.Pro466His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544386.1",
"strand": false,
"transcript": "ENST00000874327.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874323.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1340C>A",
"hgvs_p": "p.Pro447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544382.1",
"strand": false,
"transcript": "ENST00000874323.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874329.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1304C>A",
"hgvs_p": "p.Pro435His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544388.1",
"strand": false,
"transcript": "ENST00000874329.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 457,
"aa_ref": "P",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001386304.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1295C>A",
"hgvs_p": "p.Pro432His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373233.1",
"strand": false,
"transcript": "NM_001386304.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 457,
"aa_ref": "P",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874332.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1295C>A",
"hgvs_p": "p.Pro432His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544391.1",
"strand": false,
"transcript": "ENST00000874332.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "P",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874330.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1289C>A",
"hgvs_p": "p.Pro430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544389.1",
"strand": false,
"transcript": "ENST00000874330.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 445,
"aa_ref": "P",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001386305.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Pro420His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373234.1",
"strand": false,
"transcript": "NM_001386305.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 434,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874325.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Pro409His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544384.1",
"strand": false,
"transcript": "ENST00000874325.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 418,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874331.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1178C>A",
"hgvs_p": "p.Pro393His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544390.1",
"strand": false,
"transcript": "ENST00000874331.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 416,
"aa_ref": "P",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001365052.2",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1172C>A",
"hgvs_p": "p.Pro391His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351981.1",
"strand": false,
"transcript": "NM_001365052.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1179,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386306.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1100C>A",
"hgvs_p": "p.Pro367His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373235.1",
"strand": false,
"transcript": "NM_001386306.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1179,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874322.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1100C>A",
"hgvs_p": "p.Pro367His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544381.1",
"strand": false,
"transcript": "ENST00000874322.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121909555",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.145,
"pos": 173903968,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.969,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001386302.1"
}
]
}