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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: 20-37999220-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37999220&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37999220,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014657.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "NM_001303457.2",
"protein_id": "NP_001290386.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373447.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303457.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "ENST00000373447.8",
"protein_id": "ENSP00000362546.3",
"transcript_support_level": 1,
"aa_start": 921,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303457.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373447.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "ENST00000373448.6",
"protein_id": "ENSP00000362547.2",
"transcript_support_level": 1,
"aa_start": 921,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373448.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "ENST00000898963.1",
"protein_id": "ENSP00000569022.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898963.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "NM_014657.3",
"protein_id": "NP_055472.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014657.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "ENST00000898962.1",
"protein_id": "ENSP00000569021.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898962.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2746G>A",
"hgvs_p": "p.Asp916Asn",
"transcript": "ENST00000911389.1",
"protein_id": "ENSP00000581448.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2746,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911389.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "XM_047440606.1",
"protein_id": "XP_047296562.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440606.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"transcript": "XM_017028148.3",
"protein_id": "XP_016883637.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028148.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Gly871Glu",
"transcript": "XM_011529114.3",
"protein_id": "XP_011527416.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 877,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529114.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Gly871Glu",
"transcript": "XM_047440607.1",
"protein_id": "XP_047296563.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 877,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440607.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Gly871Glu",
"transcript": "XM_047440608.1",
"protein_id": "XP_047296564.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 877,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "c.2653-2267G>A",
"hgvs_p": null,
"transcript": "ENST00000950416.1",
"protein_id": "ENSP00000620475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "n.220G>A",
"hgvs_p": null,
"transcript": "ENST00000473288.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000473288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "n.2855G>A",
"hgvs_p": null,
"transcript": "XR_001754440.3",
"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": "pseudogene",
"feature": "XR_001754440.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"hgvs_c": "n.2942G>A",
"hgvs_p": null,
"transcript": "XR_007067483.1",
"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": "pseudogene",
"feature": "XR_007067483.1"
}
],
"gene_symbol": "TTI1",
"gene_hgnc_id": 29029,
"dbsnp": "rs375131638",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7100563645362854,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.5332,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.158,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014657.3",
"gene_symbol": "TTI1",
"hgnc_id": 29029,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn"
}
],
"clinvar_disease": "Abnormal brain morphology,Neurodevelopmental disorder with microcephaly and movement abnormalities",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Abnormal brain morphology|Neurodevelopmental disorder with microcephaly and movement abnormalities",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}