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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: 19-6693033-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6693033&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6693033,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000064.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3281C>T",
"hgvs_p": "p.Ala1094Val",
"transcript": "NM_000064.4",
"protein_id": "NP_000055.2",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1663,
"cds_start": 3281,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245907.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000064.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3281C>T",
"hgvs_p": "p.Ala1094Val",
"transcript": "ENST00000245907.11",
"protein_id": "ENSP00000245907.4",
"transcript_support_level": 1,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1663,
"cds_start": 3281,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000064.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245907.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Ala1098Val",
"transcript": "ENST00000952696.1",
"protein_id": "ENSP00000622755.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1667,
"cds_start": 3293,
"cds_end": null,
"cds_length": 5004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952696.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3278C>T",
"hgvs_p": "p.Ala1093Val",
"transcript": "ENST00000879543.1",
"protein_id": "ENSP00000549602.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1662,
"cds_start": 3278,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879543.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3278C>T",
"hgvs_p": "p.Ala1093Val",
"transcript": "ENST00000879546.1",
"protein_id": "ENSP00000549605.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1662,
"cds_start": 3278,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879546.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3281C>T",
"hgvs_p": "p.Ala1094Val",
"transcript": "ENST00000879545.1",
"protein_id": "ENSP00000549604.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1661,
"cds_start": 3281,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879545.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3083C>T",
"hgvs_p": "p.Ala1028Val",
"transcript": "ENST00000879544.1",
"protein_id": "ENSP00000549603.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1597,
"cds_start": 3083,
"cds_end": null,
"cds_length": 4794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879544.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.2405C>T",
"hgvs_p": "p.Ala802Val",
"transcript": "ENST00000695654.1",
"protein_id": "ENSP00000512085.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1338,
"cds_start": 2405,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695654.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.3158C>T",
"hgvs_p": "p.Ala1053Val",
"transcript": "ENST00000695652.1",
"protein_id": "ENSP00000512083.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695652.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000695653.1",
"protein_id": "ENSP00000512084.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 966,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695653.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.51C>T",
"hgvs_p": null,
"transcript": "ENST00000598805.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000598805.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.1629C>T",
"hgvs_p": null,
"transcript": "ENST00000695651.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.*1625C>T",
"hgvs_p": null,
"transcript": "ENST00000695655.1",
"protein_id": "ENSP00000512086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.2645C>T",
"hgvs_p": null,
"transcript": "ENST00000695692.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.*1625C>T",
"hgvs_p": null,
"transcript": "ENST00000695655.1",
"protein_id": "ENSP00000512086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695655.1"
}
],
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"dbsnp": "rs121909584",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8093982338905334,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1579,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.775,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000064.4",
"gene_symbol": "C3",
"hgnc_id": 1318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3281C>T",
"hgvs_p": "p.Ala1094Val"
}
],
"clinvar_disease": "Atypical hemolytic-uremic syndrome with C3 anomaly",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Atypical hemolytic-uremic syndrome with C3 anomaly",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}