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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: 17-11930048-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=11930048&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 11930048,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000262442.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.12060G>A",
"hgvs_p": "p.Thr4020Thr",
"transcript": "NM_001372.4",
"protein_id": "NP_001363.2",
"transcript_support_level": null,
"aa_start": 4020,
"aa_end": null,
"aa_length": 4486,
"cds_start": 12060,
"cds_end": null,
"cds_length": 13461,
"cdna_start": 12089,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": "ENST00000262442.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.12060G>A",
"hgvs_p": "p.Thr4020Thr",
"transcript": "ENST00000262442.9",
"protein_id": "ENSP00000262442.3",
"transcript_support_level": 1,
"aa_start": 4020,
"aa_end": null,
"aa_length": 4486,
"cds_start": 12060,
"cds_end": null,
"cds_length": 13461,
"cdna_start": 12089,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": "NM_001372.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Thr332Thr",
"transcript": "ENST00000608377.5",
"protein_id": "ENSP00000476951.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 798,
"cds_start": 996,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3147,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "n.1523G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Thr332Thr",
"transcript": "NM_004662.2",
"protein_id": "NP_004653.2",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 798,
"cds_start": 996,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.12060G>A",
"hgvs_p": "p.Thr4020Thr",
"transcript": "XM_011523703.3",
"protein_id": "XP_011522005.1",
"transcript_support_level": null,
"aa_start": 4020,
"aa_end": null,
"aa_length": 4501,
"cds_start": 12060,
"cds_end": null,
"cds_length": 13506,
"cdna_start": 12089,
"cdna_end": null,
"cdna_length": 13756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.11943G>A",
"hgvs_p": "p.Thr3981Thr",
"transcript": "XM_017024292.3",
"protein_id": "XP_016879781.1",
"transcript_support_level": null,
"aa_start": 3981,
"aa_end": null,
"aa_length": 4462,
"cds_start": 11943,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 11972,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.9942G>A",
"hgvs_p": "p.Thr3314Thr",
"transcript": "XM_017024293.2",
"protein_id": "XP_016879782.1",
"transcript_support_level": null,
"aa_start": 3314,
"aa_end": null,
"aa_length": 3795,
"cds_start": 9942,
"cds_end": null,
"cds_length": 11388,
"cdna_start": 10036,
"cdna_end": null,
"cdna_length": 11703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.11878-1966G>A",
"hgvs_p": null,
"transcript": "ENST00000454412.6",
"protein_id": "ENSP00000414874.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4410,
"cds_start": -4,
"cds_end": null,
"cds_length": 13233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"dbsnp": "rs1859887",
"frequency_reference_population": 0.30383983,
"hom_count_reference_population": 77315,
"allele_count_reference_population": 490279,
"gnomad_exomes_af": 0.308914,
"gnomad_genomes_af": 0.255046,
"gnomad_exomes_ac": 451515,
"gnomad_genomes_ac": 38764,
"gnomad_exomes_homalt": 71748,
"gnomad_genomes_homalt": 5567,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"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": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.205,
"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": "ENST00000262442.9",
"gene_symbol": "DNAH9",
"hgnc_id": 2953,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.12060G>A",
"hgvs_p": "p.Thr4020Thr"
}
],
"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
}