← 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: 6-73759022-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73759022&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73759022,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_133493.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met",
"transcript": "NM_133493.5",
"protein_id": "NP_598000.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1445,
"cds_start": 752,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287097.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133493.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met",
"transcript": "ENST00000287097.6",
"protein_id": "ENSP00000287097.4",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 1445,
"cds_start": 752,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133493.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287097.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met",
"transcript": "ENST00000437994.6",
"protein_id": "ENSP00000388062.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 1428,
"cds_start": 752,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437994.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Thr174Met",
"transcript": "ENST00000422508.6",
"protein_id": "ENSP00000404475.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 1368,
"cds_start": 521,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422508.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met",
"transcript": "NM_001159587.3",
"protein_id": "NP_001153059.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1428,
"cds_start": 752,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159587.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Thr174Met",
"transcript": "NM_001159588.3",
"protein_id": "NP_001153060.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1368,
"cds_start": 521,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159588.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Thr238Met",
"transcript": "XM_047418211.1",
"protein_id": "XP_047274167.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 1432,
"cds_start": 713,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418211.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Thr11Met",
"transcript": "XM_047418212.1",
"protein_id": "XP_047274168.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1205,
"cds_start": 32,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418212.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Thr11Met",
"transcript": "XM_047418213.1",
"protein_id": "XP_047274169.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1205,
"cds_start": 32,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418213.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Thr11Met",
"transcript": "XM_047418214.1",
"protein_id": "XP_047274170.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1205,
"cds_start": 32,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418214.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Thr11Met",
"transcript": "XM_047418215.1",
"protein_id": "XP_047274171.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1205,
"cds_start": 32,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418215.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Thr11Met",
"transcript": "XM_047418216.1",
"protein_id": "XP_047274172.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1205,
"cds_start": 32,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"hgvs_c": "n.724C>T",
"hgvs_p": null,
"transcript": "ENST00000649530.1",
"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": "ENST00000649530.1"
}
],
"gene_symbol": "CD109",
"gene_hgnc_id": 21685,
"dbsnp": "rs199660260",
"frequency_reference_population": 0.000052992298,
"hom_count_reference_population": 0,
"allele_count_reference_population": 84,
"gnomad_exomes_af": 0.0000530354,
"gnomad_genomes_af": 0.0000525866,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12907585501670837,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.337,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_133493.5",
"gene_symbol": "CD109",
"hgnc_id": 21685,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Met"
}
],
"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
}