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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: 1-173909645-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173909645&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINC1",
"hgnc_id": 775,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001386302.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 13,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1722,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary antithrombin deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7875837087631226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000488.4",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"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": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367698.4",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"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": "C",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874328.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397Cys",
"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": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386302.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874324.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874326.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"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": "C",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386303.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"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": "C",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874327.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"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": "C",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874323.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"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": "C",
"aa_end": null,
"aa_length": 460,
"aa_ref": "R",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874329.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"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": "C",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386304.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Cys",
"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": "C",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874332.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Cys",
"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": "C",
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"aa_length": 455,
"aa_ref": "R",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874330.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"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": "C",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386305.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1003C>T",
"hgvs_p": "p.Arg335Cys",
"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": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1305,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874325.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"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": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1257,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874331.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308Cys",
"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": "C",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1251,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365052.2",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"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
},
{
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"aa_length": 392,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1179,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386306.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"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": "C",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1179,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874322.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 626,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000487183.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "n.*85C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000487183.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs765761813",
"effect": "missense_variant",
"frequency_reference_population": 0.00000805623,
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"gnomad_exomes_ac": 12,
"gnomad_exomes_af": 0.0000082109,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657091,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Hereditary antithrombin deficiency",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.438,
"pos": 173909645,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.661,
"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"
}
]
}