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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: 1-22661354-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=22661354&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 22661354,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000509305.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "NM_001378156.1",
"protein_id": "NP_001365085.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": "ENST00000509305.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000509305.6",
"protein_id": "ENSP00000423689.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": "NM_001378156.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Arg",
"transcript": "ENST00000695760.1",
"protein_id": "ENSP00000512153.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 277,
"cds_start": 802,
"cds_end": null,
"cds_length": 834,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Gly244Arg",
"transcript": "NM_000491.5",
"protein_id": "NP_000482.3",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 253,
"cds_start": 730,
"cds_end": null,
"cds_length": 762,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "NM_001371184.3",
"protein_id": "NP_001358113.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000695754.1",
"protein_id": "ENSP00000512147.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000695755.1",
"protein_id": "ENSP00000512148.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000695756.1",
"protein_id": "ENSP00000512149.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000695757.1",
"protein_id": "ENSP00000512150.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 251,
"cds_start": 724,
"cds_end": null,
"cds_length": 756,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Arg",
"transcript": "ENST00000695762.1",
"protein_id": "ENSP00000512155.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 248,
"cds_start": 715,
"cds_end": null,
"cds_length": 747,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.*294G>A",
"hgvs_p": null,
"transcript": "ENST00000695759.1",
"protein_id": "ENSP00000512152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.*294G>A",
"hgvs_p": null,
"transcript": "ENST00000695761.1",
"protein_id": "ENSP00000512154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": -4,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.*294G>A",
"hgvs_p": null,
"transcript": "ENST00000695758.1",
"protein_id": "ENSP00000512151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.*893G>A",
"hgvs_p": null,
"transcript": "ENST00000695763.1",
"protein_id": "ENSP00000512156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308848",
"gene_hgnc_id": null,
"hgvs_c": "n.81+1820C>T",
"hgvs_p": null,
"transcript": "ENST00000836788.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.*38G>A",
"hgvs_p": null,
"transcript": "ENST00000432749.6",
"protein_id": "ENSP00000404606.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"dbsnp": "rs34813378",
"frequency_reference_population": 0.000047094924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000499378,
"gnomad_genomes_af": 0.0000197441,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9771673679351807,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.988,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9867,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.626,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000509305.6",
"gene_symbol": "C1QB",
"hgnc_id": 1242,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000836788.1",
"gene_symbol": "ENSG00000308848",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81+1820C>T",
"hgvs_p": null
}
],
"clinvar_disease": "C1Q deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "C1Q deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}