← Back to variant description
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: 7-44114226-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44114226&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44114226,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001129.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3442G>A",
"hgvs_p": "p.Val1148Ile",
"transcript": "NM_001129.5",
"protein_id": "NP_001120.3",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223357.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3442G>A",
"hgvs_p": "p.Val1148Ile",
"transcript": "ENST00000223357.8",
"protein_id": "ENSP00000223357.3",
"transcript_support_level": 1,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001129.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223357.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3454G>A",
"hgvs_p": "p.Val1152Ile",
"transcript": "ENST00000910440.1",
"protein_id": "ENSP00000580499.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3454,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910440.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3436G>A",
"hgvs_p": "p.Val1146Ile",
"transcript": "ENST00000910438.1",
"protein_id": "ENSP00000580497.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910438.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3433G>A",
"hgvs_p": "p.Val1145Ile",
"transcript": "ENST00000935640.1",
"protein_id": "ENSP00000605699.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3433,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935640.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Val1122Ile",
"transcript": "ENST00000910437.1",
"protein_id": "ENSP00000580496.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910437.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Val1110Ile",
"transcript": "ENST00000910441.1",
"protein_id": "ENSP00000580500.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910441.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3262G>A",
"hgvs_p": "p.Val1088Ile",
"transcript": "ENST00000935641.1",
"protein_id": "ENSP00000605700.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935641.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Val1057Ile",
"transcript": "ENST00000910439.1",
"protein_id": "ENSP00000580498.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910439.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"transcript": "ENST00000450684.2",
"protein_id": "ENSP00000398878.2",
"transcript_support_level": 2,
"aa_start": 723,
"aa_end": null,
"aa_length": 733,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450684.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Val1122Ile",
"transcript": "XM_011515162.2",
"protein_id": "XP_011513464.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515162.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "n.*1639G>A",
"hgvs_p": null,
"transcript": "ENST00000413907.1",
"protein_id": "ENSP00000410349.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000413907.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "n.*1639G>A",
"hgvs_p": null,
"transcript": "ENST00000413907.1",
"protein_id": "ENSP00000410349.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000413907.1"
}
],
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"dbsnp": "rs13898",
"frequency_reference_population": 0.030537827,
"hom_count_reference_population": 912,
"allele_count_reference_population": 49218,
"gnomad_exomes_af": 0.0314939,
"gnomad_genomes_af": 0.0212227,
"gnomad_exomes_ac": 46034,
"gnomad_genomes_ac": 3184,
"gnomad_exomes_homalt": 855,
"gnomad_genomes_homalt": 57,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005347609519958496,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.1072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.835,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001129.5",
"gene_symbol": "AEBP1",
"hgnc_id": 303,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3442G>A",
"hgvs_p": "p.Val1148Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}