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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: 1-173904038-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173904038&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173904038,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001386302.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Ala416Ser",
"transcript": "NM_000488.4",
"protein_id": "NP_000479.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 464,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367698.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000488.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1246G>T",
"hgvs_p": "p.Ala416Ser",
"transcript": "ENST00000367698.4",
"protein_id": "ENSP00000356671.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 464,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000488.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367698.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1375G>T",
"hgvs_p": "p.Ala459Ser",
"transcript": "ENST00000874328.1",
"protein_id": "ENSP00000544387.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 507,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874328.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1369G>T",
"hgvs_p": "p.Ala457Ser",
"transcript": "NM_001386302.1",
"protein_id": "NP_001373231.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 505,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386302.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1369G>T",
"hgvs_p": "p.Ala457Ser",
"transcript": "ENST00000874324.1",
"protein_id": "ENSP00000544383.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 505,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874324.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Ala449Ser",
"transcript": "ENST00000874326.1",
"protein_id": "ENSP00000544385.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 497,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874326.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1327G>T",
"hgvs_p": "p.Ala443Ser",
"transcript": "NM_001386303.1",
"protein_id": "NP_001373232.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 491,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386303.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1327G>T",
"hgvs_p": "p.Ala443Ser",
"transcript": "ENST00000874327.1",
"protein_id": "ENSP00000544386.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 491,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874327.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Ala424Ser",
"transcript": "ENST00000874323.1",
"protein_id": "ENSP00000544382.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 472,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874323.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1234G>T",
"hgvs_p": "p.Ala412Ser",
"transcript": "ENST00000874329.1",
"protein_id": "ENSP00000544388.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 460,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874329.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1225G>T",
"hgvs_p": "p.Ala409Ser",
"transcript": "NM_001386304.1",
"protein_id": "NP_001373233.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 457,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386304.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1225G>T",
"hgvs_p": "p.Ala409Ser",
"transcript": "ENST00000874332.1",
"protein_id": "ENSP00000544391.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 457,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874332.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1219G>T",
"hgvs_p": "p.Ala407Ser",
"transcript": "ENST00000874330.1",
"protein_id": "ENSP00000544389.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 455,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874330.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Ala397Ser",
"transcript": "NM_001386305.1",
"protein_id": "NP_001373234.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 445,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386305.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1156G>T",
"hgvs_p": "p.Ala386Ser",
"transcript": "ENST00000874325.1",
"protein_id": "ENSP00000544384.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 434,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874325.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1108G>T",
"hgvs_p": "p.Ala370Ser",
"transcript": "ENST00000874331.1",
"protein_id": "ENSP00000544390.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 418,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874331.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1102G>T",
"hgvs_p": "p.Ala368Ser",
"transcript": "NM_001365052.2",
"protein_id": "NP_001351981.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 416,
"cds_start": 1102,
"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": "NM_001365052.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Ala344Ser",
"transcript": "NM_001386306.1",
"protein_id": "NP_001373235.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 392,
"cds_start": 1030,
"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": "NM_001386306.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Ala344Ser",
"transcript": "ENST00000874322.1",
"protein_id": "ENSP00000544381.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 392,
"cds_start": 1030,
"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": "ENST00000874322.1"
}
],
"gene_symbol": "SERPINC1",
"gene_hgnc_id": 775,
"dbsnp": "rs121909548",
"frequency_reference_population": 0.0014564238,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2351,
"gnomad_exomes_af": 0.00149465,
"gnomad_genomes_af": 0.0010896,
"gnomad_exomes_ac": 2185,
"gnomad_genomes_ac": 166,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21645930409431458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.673,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.218,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": "PM5,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM5",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386302.1",
"gene_symbol": "SERPINC1",
"hgnc_id": 775,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1369G>T",
"hgvs_p": "p.Ala457Ser"
}
],
"clinvar_disease": "Abnormal bleeding,Hereditary antithrombin deficiency,Thrombocytopenia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:1 LB:2",
"phenotype_combined": "Hereditary antithrombin deficiency|not specified|not provided|Thrombocytopenia;Abnormal bleeding",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}