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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: 16-90037308-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=90037308&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 90037308,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001481.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "NM_001481.3",
"protein_id": "NP_001472.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 478,
"cds_start": 833,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268699.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001481.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000268699.9",
"protein_id": "ENSP00000268699.4",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 478,
"cds_start": 833,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001481.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268699.9"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.*793G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566266.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.*793G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566266.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"transcript": "ENST00000889287.1",
"protein_id": "ENSP00000559346.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 476,
"cds_start": 827,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889287.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000889286.1",
"protein_id": "ENSP00000559345.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 475,
"cds_start": 833,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889286.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274His",
"transcript": "ENST00000964023.1",
"protein_id": "ENSP00000634082.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 474,
"cds_start": 821,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964023.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "NM_001286209.2",
"protein_id": "NP_001273138.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 453,
"cds_start": 758,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286209.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "ENST00000536122.7",
"protein_id": "ENSP00000440977.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 453,
"cds_start": 758,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536122.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000964021.1",
"protein_id": "ENSP00000634080.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 449,
"cds_start": 833,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964021.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195His",
"transcript": "NM_001286205.2",
"protein_id": "NP_001273134.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 395,
"cds_start": 584,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286205.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195His",
"transcript": "ENST00000620723.4",
"protein_id": "ENSP00000482877.1",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 395,
"cds_start": 584,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620723.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"transcript": "NM_001286208.2",
"protein_id": "NP_001273137.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 286,
"cds_start": 257,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286208.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000964022.1",
"protein_id": "ENSP00000634081.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 256,
"cds_start": 167,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964022.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195His",
"transcript": "XM_006721175.4",
"protein_id": "XP_006721238.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 395,
"cds_start": 584,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721175.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195His",
"transcript": "XM_011522992.3",
"protein_id": "XP_011521294.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 395,
"cds_start": 584,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522992.3"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.804G>A",
"hgvs_p": null,
"transcript": "ENST00000540721.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000540721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.431G>A",
"hgvs_p": null,
"transcript": "ENST00000564802.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000564802.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS8",
"gene_hgnc_id": 4166,
"hgvs_c": "n.468G>A",
"hgvs_p": null,
"transcript": "ENST00000569399.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000569399.1"
},
{
"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.1636G>A",
"hgvs_p": null,
"transcript": "ENST00000569558.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000569558.5"
}
],
"gene_symbol": "DRC4",
"gene_hgnc_id": 4166,
"dbsnp": "rs117053233",
"frequency_reference_population": 0.010536516,
"hom_count_reference_population": 126,
"allele_count_reference_population": 17006,
"gnomad_exomes_af": 0.0108368,
"gnomad_genomes_af": 0.00765474,
"gnomad_exomes_ac": 15840,
"gnomad_genomes_ac": 1166,
"gnomad_exomes_homalt": 118,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006636321544647217,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.739,
"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": "NM_001481.3",
"gene_symbol": "DRC4",
"hgnc_id": 4166,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000268699.9",
"gene_symbol": "GAS8",
"hgnc_id": 4166,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His"
}
],
"clinvar_disease": "Primary ciliary dyskinesia 33,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Primary ciliary dyskinesia 33|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}