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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: 22-22647013-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=22647013&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 22647013,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001282879.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"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": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "NM_199127.3",
"protein_id": "NP_954578.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 218,
"cds_start": 335,
"cds_end": null,
"cds_length": 657,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 943,
"mane_select": "ENST00000448514.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199127.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"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": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "ENST00000448514.3",
"protein_id": "ENSP00000415676.2",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 218,
"cds_start": 335,
"cds_end": null,
"cds_length": 657,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 943,
"mane_select": "NM_199127.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448514.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "ENST00000480559.6",
"protein_id": "ENSP00000419751.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 218,
"cds_start": 335,
"cds_end": null,
"cds_length": 657,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480559.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "NM_001282879.2",
"protein_id": "NP_001269808.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 335,
"cds_end": null,
"cds_length": 759,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282879.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "NM_001391910.1",
"protein_id": "NP_001378839.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 335,
"cds_end": null,
"cds_length": 759,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391910.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "NM_001391911.1",
"protein_id": "NP_001378840.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 335,
"cds_end": null,
"cds_length": 759,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391911.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "ENST00000417145.2",
"protein_id": "ENSP00000499086.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 335,
"cds_end": null,
"cds_length": 759,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417145.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "ENST00000652219.1",
"protein_id": "ENSP00000498628.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 135,
"cds_start": 335,
"cds_end": null,
"cds_length": 409,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652219.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "ENST00000652249.1",
"protein_id": "ENSP00000499029.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 130,
"cds_start": 335,
"cds_end": null,
"cds_length": 394,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652249.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "XM_011530497.1",
"protein_id": "XP_011528799.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 335,
"cds_end": null,
"cds_length": 759,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530497.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "XM_047441586.1",
"protein_id": "XP_047297542.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 335,
"cds_end": null,
"cds_length": 759,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGL",
"gene_hgnc_id": 5853,
"hgvs_c": "n.22647013C>A",
"hgvs_p": null,
"transcript": null,
"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": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "n.104-128C>A",
"hgvs_p": null,
"transcript": "ENST00000652467.1",
"protein_id": "ENSP00000499093.1",
"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": 538,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"hgvs_c": "c.*134C>A",
"hgvs_p": null,
"transcript": "ENST00000651213.1",
"protein_id": "ENSP00000498815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651213.1"
}
],
"gene_symbol": "GGTLC2",
"gene_hgnc_id": 18596,
"dbsnp": "rs150559361",
"frequency_reference_population": 0.0000065818917,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658189,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5274357795715332,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.6499,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.075,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282879.2",
"gene_symbol": "GGTLC2",
"hgnc_id": 18596,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "",
"gene_symbol": "IGL",
"hgnc_id": 5853,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.22647013C>A",
"hgvs_p": null
}
],
"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
}