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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: 1-22639317-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=22639317&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 22639317,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000374642.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "NM_015991.4",
"protein_id": "NP_057075.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1091,
"mane_select": "ENST00000374642.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "ENST00000374642.8",
"protein_id": "ENSP00000363773.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1091,
"mane_select": "NM_015991.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "ENST00000402322.2",
"protein_id": "ENSP00000385564.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289692",
"gene_hgnc_id": null,
"hgvs_c": "c.492+156G>A",
"hgvs_p": null,
"transcript": "ENST00000695747.1",
"protein_id": "ENSP00000512140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "NM_001347465.2",
"protein_id": "NP_001334394.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "NM_001347466.2",
"protein_id": "NP_001334395.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "ENST00000438241.2",
"protein_id": "ENSP00000416841.2",
"transcript_support_level": 3,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "ENST00000695740.1",
"protein_id": "ENSP00000512133.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*",
"transcript": "ENST00000695744.1",
"protein_id": "ENSP00000512137.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Trp91*",
"transcript": "ENST00000695738.1",
"protein_id": "ENSP00000512131.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 120,
"cds_start": 273,
"cds_end": null,
"cds_length": 363,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Trp91*",
"transcript": "ENST00000695745.1",
"protein_id": "ENSP00000512138.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 120,
"cds_start": 273,
"cds_end": null,
"cds_length": 363,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1408,
"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": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.*862G>A",
"hgvs_p": null,
"transcript": "ENST00000695742.1",
"protein_id": "ENSP00000512135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1597,
"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": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.*935G>A",
"hgvs_p": null,
"transcript": "ENST00000695741.1",
"protein_id": "ENSP00000512134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1542,
"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": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.*642G>A",
"hgvs_p": null,
"transcript": "ENST00000695739.1",
"protein_id": "ENSP00000512132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1307,
"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": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.*642G>A",
"hgvs_p": null,
"transcript": "ENST00000695746.1",
"protein_id": "ENSP00000512139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"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": "C1QA",
"gene_hgnc_id": 1241,
"hgvs_c": "c.*1192G>A",
"hgvs_p": null,
"transcript": "ENST00000695743.1",
"protein_id": "ENSP00000512136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": -4,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289692",
"gene_hgnc_id": null,
"hgvs_c": "c.492+156G>A",
"hgvs_p": null,
"transcript": "ENST00000695748.1",
"protein_id": "ENSP00000512141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C1QA",
"gene_hgnc_id": 1241,
"dbsnp": "rs34139950",
"frequency_reference_population": 6.840778e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84078e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10499999672174454,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.917,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000374642.8",
"gene_symbol": "C1QA",
"hgnc_id": 1241,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Trp216*"
},
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695747.1",
"gene_symbol": "ENSG00000289692",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.492+156G>A",
"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
}