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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: 1-173909333-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173909333&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SERPINC1",
"hgnc_id": 775,
"hgvs_c": "c.1276+219T>C",
"hgvs_p": null,
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001386302.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 70128,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000488.4",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1153+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367698.4",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1153+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 507,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": null,
"cds_end": null,
"cds_length": 1524,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874328.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1282+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386302.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1276+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874324.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1276+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 497,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": null,
"cds_end": null,
"cds_length": 1494,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874326.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1252+219T>C",
"hgvs_p": null,
"intron_rank": 6,
"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": null,
"aa_end": null,
"aa_length": 491,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": null,
"cds_end": null,
"cds_length": 1476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386303.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1234+219T>C",
"hgvs_p": null,
"intron_rank": 6,
"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": null,
"aa_end": null,
"aa_length": 491,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": null,
"cds_end": null,
"cds_length": 1476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874327.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1234+219T>C",
"hgvs_p": null,
"intron_rank": 6,
"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": null,
"aa_end": null,
"aa_length": 472,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": null,
"cds_end": null,
"cds_length": 1419,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874323.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1153+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 460,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": null,
"cds_end": null,
"cds_length": 1383,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874329.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1153+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386304.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1132+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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
},
{
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"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874332.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1132+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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
},
{
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"aa_length": 455,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000874330.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1126+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386305.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1096+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1305,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000874325.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1063+219T>C",
"hgvs_p": null,
"intron_rank": 5,
"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": null,
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"aa_length": 418,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": null,
"cds_end": null,
"cds_length": 1257,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874331.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1015+219T>C",
"hgvs_p": null,
"intron_rank": 4,
"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": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365052.2",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.1009+219T>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001351981.1",
"strand": false,
"transcript": "NM_001365052.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386306.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.937+219T>C",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001373235.1",
"strand": false,
"transcript": "NM_001386306.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874322.1",
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"hgvs_c": "c.937+219T>C",
"hgvs_p": null,
"intron_rank": 4,
"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": "rs1799876",
"effect": "intron_variant",
"frequency_reference_population": 0.46124098,
"gene_hgnc_id": 775,
"gene_symbol": "SERPINC1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 70128,
"gnomad_genomes_af": 0.461241,
"gnomad_genomes_homalt": 19290,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 19290,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.51,
"pos": 173909333,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001386302.1"
}
]
}