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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: 16-90036427-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=90036427&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 90036427,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000268699.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Glu199Glu",
"transcript": "NM_001481.3",
"protein_id": "NP_001472.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 478,
"cds_start": 597,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": "ENST00000268699.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Glu199Glu",
"transcript": "ENST00000268699.9",
"protein_id": "ENSP00000268699.4",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 478,
"cds_start": 597,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": "NM_001481.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.*557A>G",
"hgvs_p": null,
"transcript": "ENST00000566266.5",
"protein_id": "ENSP00000454343.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.*557A>G",
"hgvs_p": null,
"transcript": "ENST00000566266.5",
"protein_id": "ENSP00000454343.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.522A>G",
"hgvs_p": "p.Glu174Glu",
"transcript": "NM_001286209.2",
"protein_id": "NP_001273138.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 453,
"cds_start": 522,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.522A>G",
"hgvs_p": "p.Glu174Glu",
"transcript": "ENST00000536122.7",
"protein_id": "ENSP00000440977.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 453,
"cds_start": 522,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.348A>G",
"hgvs_p": "p.Glu116Glu",
"transcript": "NM_001286205.2",
"protein_id": "NP_001273134.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 348,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.348A>G",
"hgvs_p": "p.Glu116Glu",
"transcript": "ENST00000620723.4",
"protein_id": "ENSP00000482877.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 348,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.21A>G",
"hgvs_p": "p.Glu7Glu",
"transcript": "NM_001286208.2",
"protein_id": "NP_001273137.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 286,
"cds_start": 21,
"cds_end": null,
"cds_length": 861,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.348A>G",
"hgvs_p": "p.Glu116Glu",
"transcript": "XM_006721175.4",
"protein_id": "XP_006721238.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 348,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.348A>G",
"hgvs_p": "p.Glu116Glu",
"transcript": "XM_011522992.3",
"protein_id": "XP_011521294.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 348,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.581A>G",
"hgvs_p": null,
"transcript": "ENST00000537797.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.568A>G",
"hgvs_p": null,
"transcript": "ENST00000540721.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.195A>G",
"hgvs_p": null,
"transcript": "ENST00000564802.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000565000.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.*370A>G",
"hgvs_p": null,
"transcript": "ENST00000565062.5",
"protein_id": "ENSP00000455936.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.232A>G",
"hgvs_p": null,
"transcript": "ENST00000569399.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.755A>G",
"hgvs_p": null,
"transcript": "ENST00000569558.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.*370A>G",
"hgvs_p": null,
"transcript": "ENST00000565062.5",
"protein_id": "ENSP00000455936.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"dbsnp": "rs868045",
"frequency_reference_population": 0.38344902,
"hom_count_reference_population": 125276,
"allele_count_reference_population": 617958,
"gnomad_exomes_af": 0.38587,
"gnomad_genomes_af": 0.360228,
"gnomad_exomes_ac": 563155,
"gnomad_genomes_ac": 54803,
"gnomad_exomes_homalt": 114764,
"gnomad_genomes_homalt": 10512,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.996,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000268699.9",
"gene_symbol": "GAS8",
"hgnc_id": 4166,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Glu199Glu"
},
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001481.3",
"gene_symbol": "DRC4",
"hgnc_id": 4166,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Glu199Glu"
}
],
"clinvar_disease": "Primary ciliary dyskinesia 33,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Primary ciliary dyskinesia 33|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}