← 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: 4-157170449-CAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=157170449&ref=CAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 157170449,
"ref": "CAA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000824.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "NM_000824.5",
"protein_id": "NP_000815.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264428.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000824.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "ENST00000264428.9",
"protein_id": "ENSP00000264428.4",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000824.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264428.9"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "ENST00000509282.1",
"protein_id": "ENSP00000427186.1",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509282.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1286_1287delAA",
"hgvs_p": "p.Lys429fs",
"transcript": "ENST00000960009.1",
"protein_id": "ENSP00000630068.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 519,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960009.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1238_1239delAA",
"hgvs_p": "p.Lys413fs",
"transcript": "ENST00000960007.1",
"protein_id": "ENSP00000630066.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 503,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960007.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1232_1233delAA",
"hgvs_p": "p.Lys411fs",
"transcript": "ENST00000960008.1",
"protein_id": "ENSP00000630067.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 501,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960008.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "NM_001166060.2",
"protein_id": "NP_001159532.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166060.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "ENST00000874196.1",
"protein_id": "ENSP00000544255.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874196.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "ENST00000960012.1",
"protein_id": "ENSP00000630071.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960012.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs",
"transcript": "ENST00000960013.1",
"protein_id": "ENSP00000630072.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 497,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960013.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.1079_1080delAA",
"hgvs_p": "p.Lys360fs",
"transcript": "ENST00000960011.1",
"protein_id": "ENSP00000630070.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 450,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960011.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.926_927delAA",
"hgvs_p": "p.Lys309fs",
"transcript": "NM_001440545.1",
"protein_id": "NP_001427474.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 399,
"cds_start": 926,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440545.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.320_321delAA",
"hgvs_p": "p.Lys107fs",
"transcript": "ENST00000874195.1",
"protein_id": "ENSP00000544254.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 197,
"cds_start": 320,
"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": "ENST00000874195.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.320_321delAA",
"hgvs_p": "p.Lys107fs",
"transcript": "ENST00000960010.1",
"protein_id": "ENSP00000630069.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 197,
"cds_start": 320,
"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": "ENST00000960010.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.145_146delAA",
"hgvs_p": "p.Lys49fs",
"transcript": "ENST00000512619.5",
"protein_id": "ENSP00000425433.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 56,
"cds_start": 145,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512619.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.*15_*16delAA",
"hgvs_p": null,
"transcript": "NM_001166061.2",
"protein_id": "NP_001159533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166061.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.*15_*16delAA",
"hgvs_p": null,
"transcript": "ENST00000541722.5",
"protein_id": "ENSP00000441873.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541722.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"hgvs_c": "c.*15_*16delAA",
"hgvs_p": null,
"transcript": "XM_017008035.3",
"protein_id": "XP_016863524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008035.3"
}
],
"gene_symbol": "GLRB",
"gene_hgnc_id": 4329,
"dbsnp": "rs746631259",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000824.5",
"gene_symbol": "GLRB",
"hgnc_id": 4329,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1220_1221delAA",
"hgvs_p": "p.Lys407fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}