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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: 7-44108060-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44108060&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44108060,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant,stop_gained",
"transcript": "NM_001129.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "NM_001129.5",
"protein_id": "NP_001120.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1158,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "ENST00000223357.8",
"protein_id": "ENSP00000223357.3",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 1158,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.929dupA",
"hgvs_p": "p.Tyr310fs",
"transcript": "ENST00000910440.1",
"protein_id": "ENSP00000580499.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1162,
"cds_start": 930,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "ENST00000910438.1",
"protein_id": "ENSP00000580497.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1156,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "ENST00000935640.1",
"protein_id": "ENSP00000605699.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1155,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "ENST00000910437.1",
"protein_id": "ENSP00000580496.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1132,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "ENST00000910441.1",
"protein_id": "ENSP00000580500.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1120,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "ENST00000935641.1",
"protein_id": "ENSP00000605700.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1098,
"cds_start": 918,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.722dupA",
"hgvs_p": "p.Tyr241fs",
"transcript": "ENST00000910439.1",
"protein_id": "ENSP00000580498.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1067,
"cds_start": 723,
"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": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.593dupA",
"hgvs_p": "p.Tyr198fs",
"transcript": "ENST00000455443.5",
"protein_id": "ENSP00000411277.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 249,
"cds_start": 594,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455443.5"
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs",
"transcript": "XM_011515162.2",
"protein_id": "XP_011513464.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1132,
"cds_start": 918,
"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"
}
],
"gene_symbol": "AEBP1",
"gene_hgnc_id": 303,
"dbsnp": "rs1443187318",
"frequency_reference_population": 0.0000034456286,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000344563,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.903,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001129.5",
"gene_symbol": "AEBP1",
"hgnc_id": 303,
"effects": [
"frameshift_variant",
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.917dupA",
"hgvs_p": "p.Tyr306fs"
}
],
"clinvar_disease": " 2, classic-like,Ehlers-Danlos syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Ehlers-Danlos syndrome, classic-like, 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}