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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: 17-7356232-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7356232&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7356232,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320435.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "NM_001320436.2",
"protein_id": "NP_001307365.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 176,
"cds_start": 365,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000576060.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320436.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "ENST00000576060.6",
"protein_id": "ENSP00000460828.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 176,
"cds_start": 365,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320436.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576060.6"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "ENST00000389982.8",
"protein_id": "ENSP00000374632.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 203,
"cds_start": 365,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389982.8"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.389A>T",
"hgvs_p": "p.Lys130Met",
"transcript": "ENST00000330767.4",
"protein_id": "ENSP00000331466.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 184,
"cds_start": 389,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330767.4"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "NM_001320435.2",
"protein_id": "NP_001307364.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 203,
"cds_start": 365,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320435.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.389A>T",
"hgvs_p": "p.Lys130Met",
"transcript": "NM_198154.3",
"protein_id": "NP_937797.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 184,
"cds_start": 389,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198154.3"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "XM_017024571.2",
"protein_id": "XP_016880060.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 365,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024571.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "XM_017024565.2",
"protein_id": "XP_016880054.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 228,
"cds_start": 365,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024565.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.284A>T",
"hgvs_p": "p.Lys95Met",
"transcript": "XM_017024566.2",
"protein_id": "XP_016880055.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 204,
"cds_start": 284,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024566.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.263A>T",
"hgvs_p": "p.Lys88Met",
"transcript": "XM_017024567.2",
"protein_id": "XP_016880056.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 197,
"cds_start": 263,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024567.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "XM_017024568.2",
"protein_id": "XP_016880057.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 176,
"cds_start": 365,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024568.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met",
"transcript": "XM_017024569.2",
"protein_id": "XP_016880058.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 176,
"cds_start": 365,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024569.2"
}
],
"gene_symbol": "TMEM95",
"gene_hgnc_id": 27898,
"dbsnp": null,
"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": 0.0970100462436676,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.1569,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.432,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320435.2",
"gene_symbol": "TMEM95",
"hgnc_id": 27898,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.365A>T",
"hgvs_p": "p.Lys122Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}