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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: 17-11932014-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=11932014&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 11932014,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001372.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.12106G>A",
"hgvs_p": "p.Asp4036Asn",
"transcript": "NM_001372.4",
"protein_id": "NP_001363.2",
"transcript_support_level": null,
"aa_start": 4036,
"aa_end": null,
"aa_length": 4486,
"cds_start": 12106,
"cds_end": null,
"cds_length": 13461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262442.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.12106G>A",
"hgvs_p": "p.Asp4036Asn",
"transcript": "ENST00000262442.9",
"protein_id": "ENSP00000262442.3",
"transcript_support_level": 1,
"aa_start": 4036,
"aa_end": null,
"aa_length": 4486,
"cds_start": 12106,
"cds_end": null,
"cds_length": 13461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262442.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Asp348Asn",
"transcript": "ENST00000608377.5",
"protein_id": "ENSP00000476951.1",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 798,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608377.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "n.1569G>A",
"hgvs_p": null,
"transcript": "ENST00000396001.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000396001.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.11878G>A",
"hgvs_p": "p.Asp3960Asn",
"transcript": "ENST00000454412.6",
"protein_id": "ENSP00000414874.2",
"transcript_support_level": 5,
"aa_start": 3960,
"aa_end": null,
"aa_length": 4410,
"cds_start": 11878,
"cds_end": null,
"cds_length": 13233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454412.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Asp348Asn",
"transcript": "NM_004662.2",
"protein_id": "NP_004653.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 798,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004662.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.12106G>A",
"hgvs_p": "p.Asp4036Asn",
"transcript": "XM_011523703.3",
"protein_id": "XP_011522005.1",
"transcript_support_level": null,
"aa_start": 4036,
"aa_end": null,
"aa_length": 4501,
"cds_start": 12106,
"cds_end": null,
"cds_length": 13506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523703.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.11989G>A",
"hgvs_p": "p.Asp3997Asn",
"transcript": "XM_017024292.3",
"protein_id": "XP_016879781.1",
"transcript_support_level": null,
"aa_start": 3997,
"aa_end": null,
"aa_length": 4462,
"cds_start": 11989,
"cds_end": null,
"cds_length": 13389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024292.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.9988G>A",
"hgvs_p": "p.Asp3330Asn",
"transcript": "XM_017024293.2",
"protein_id": "XP_016879782.1",
"transcript_support_level": null,
"aa_start": 3330,
"aa_end": null,
"aa_length": 3795,
"cds_start": 9988,
"cds_end": null,
"cds_length": 11388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024293.2"
}
],
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"dbsnp": "rs17612861",
"frequency_reference_population": 0.30351377,
"hom_count_reference_population": 77786,
"allele_count_reference_population": 489697,
"gnomad_exomes_af": 0.309429,
"gnomad_genomes_af": 0.246659,
"gnomad_exomes_ac": 452194,
"gnomad_genomes_ac": 37503,
"gnomad_exomes_homalt": 72293,
"gnomad_genomes_homalt": 5493,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017387866973876953,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.492000013589859,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.1298,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.791,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.27672617600536,
"dbscsnv_ada_prediction": "Benign",
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001372.4",
"gene_symbol": "DNAH9",
"hgnc_id": 2953,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.12106G>A",
"hgvs_p": "p.Asp4036Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}