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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: 6-144187426-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=144187426&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 144187426,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367568.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "NM_003764.4",
"protein_id": "NP_003755.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": "ENST00000367568.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "ENST00000367568.5",
"protein_id": "ENSP00000356540.4",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": "NM_003764.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "ENST00000698355.1",
"protein_id": "ENSP00000513678.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "ENST00000698356.1",
"protein_id": "ENSP00000513679.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "ENST00000698357.1",
"protein_id": "ENSP00000513680.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Met",
"transcript": "XM_011536213.3",
"protein_id": "XP_011534515.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 313,
"cds_start": 877,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Met",
"transcript": "XM_047419436.1",
"protein_id": "XP_047275392.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 313,
"cds_start": 877,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_011536214.3",
"protein_id": "XP_011534516.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_011536217.3",
"protein_id": "XP_011534519.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_011536218.3",
"protein_id": "XP_011534520.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_047419437.1",
"protein_id": "XP_047275393.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_047419438.1",
"protein_id": "XP_047275394.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_047419439.1",
"protein_id": "XP_047275395.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_047419440.1",
"protein_id": "XP_047275396.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met",
"transcript": "XM_047419441.1",
"protein_id": "XP_047275397.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 287,
"cds_start": 799,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"dbsnp": "rs45574234",
"frequency_reference_population": 0.006895525,
"hom_count_reference_population": 63,
"allele_count_reference_population": 11114,
"gnomad_exomes_af": 0.00704913,
"gnomad_genomes_af": 0.00542351,
"gnomad_exomes_ac": 10288,
"gnomad_genomes_ac": 826,
"gnomad_exomes_homalt": 52,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009943932294845581,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.1064,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.744,
"phylop100way_prediction": "Benign",
"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": "ENST00000367568.5",
"gene_symbol": "STX11",
"hgnc_id": 11429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Met"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Familial hemophagocytic lymphohistiocytosis 4,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:2",
"phenotype_combined": "not specified|Familial hemophagocytic lymphohistiocytosis 4|not provided|Autoinflammatory syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}