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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: 3-167790461-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=167790461&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 167790461,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005025.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "NM_001122752.2",
"protein_id": "NP_001116224.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": "ENST00000446050.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122752.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000446050.7",
"protein_id": "ENSP00000397373.2",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": "NM_001122752.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446050.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000295777.9",
"protein_id": "ENSP00000295777.5",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295777.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "NM_005025.5",
"protein_id": "NP_005016.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005025.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000872947.1",
"protein_id": "ENSP00000543006.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872947.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958447.1",
"protein_id": "ENSP00000628506.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958447.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958449.1",
"protein_id": "ENSP00000628508.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958449.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958450.1",
"protein_id": "ENSP00000628509.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958450.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958451.1",
"protein_id": "ENSP00000628510.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958451.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958453.1",
"protein_id": "ENSP00000628512.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958453.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958448.1",
"protein_id": "ENSP00000628507.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 401,
"cds_start": 340,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958448.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000958452.1",
"protein_id": "ENSP00000628511.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 401,
"cds_start": 340,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958452.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000872950.1",
"protein_id": "ENSP00000543009.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 380,
"cds_start": 340,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872950.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000872948.1",
"protein_id": "ENSP00000543007.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 345,
"cds_start": 340,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872948.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000872949.1",
"protein_id": "ENSP00000543008.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 345,
"cds_start": 340,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872949.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000472747.2",
"protein_id": "ENSP00000420561.2",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 244,
"cds_start": 340,
"cds_end": null,
"cds_length": 736,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472747.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "ENST00000472941.5",
"protein_id": "ENSP00000420133.1",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 159,
"cds_start": 340,
"cds_end": null,
"cds_length": 481,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472941.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met",
"transcript": "XM_017006618.3",
"protein_id": "XP_016862107.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 410,
"cds_start": 340,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006618.3"
}
],
"gene_symbol": "SERPINI1",
"gene_hgnc_id": 8943,
"dbsnp": "rs61735308",
"frequency_reference_population": 0.00007744695,
"hom_count_reference_population": 0,
"allele_count_reference_population": 125,
"gnomad_exomes_af": 0.0000444687,
"gnomad_genomes_af": 0.000393944,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 60,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07760342955589294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.872,
"phylop100way_prediction": "Benign",
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005025.5",
"gene_symbol": "SERPINI1",
"hgnc_id": 8943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Met"
}
],
"clinvar_disease": "Familial encephalopathy with neuroserpin inclusion bodies,Inborn genetic diseases,SERPINI1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Familial encephalopathy with neuroserpin inclusion bodies|Inborn genetic diseases|SERPINI1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}