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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: 17-7580783-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7580783&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7580783,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000250092.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD68",
"gene_hgnc_id": 1693,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Gln254Lys",
"transcript": "NM_001251.3",
"protein_id": "NP_001242.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 354,
"cds_start": 760,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": "ENST00000250092.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD68",
"gene_hgnc_id": 1693,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Gln254Lys",
"transcript": "ENST00000250092.11",
"protein_id": "ENSP00000250092.6",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 354,
"cds_start": 760,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": "NM_001251.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD68",
"gene_hgnc_id": 1693,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Gln227Lys",
"transcript": "ENST00000380498.10",
"protein_id": "ENSP00000369867.6",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 327,
"cds_start": 679,
"cds_end": null,
"cds_length": 984,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD68",
"gene_hgnc_id": 1693,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Gln227Lys",
"transcript": "NM_001040059.2",
"protein_id": "NP_001035148.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 327,
"cds_start": 679,
"cds_end": null,
"cds_length": 984,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD68",
"gene_hgnc_id": 1693,
"hgvs_c": "c.163C>A",
"hgvs_p": "p.Gln55Lys",
"transcript": "ENST00000584180.1",
"protein_id": "ENSP00000462198.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 120,
"cds_start": 163,
"cds_end": null,
"cds_length": 363,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264772",
"gene_hgnc_id": null,
"hgvs_c": "n.3736C>A",
"hgvs_p": null,
"transcript": "ENST00000581621.1",
"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": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD68",
"gene_hgnc_id": 1693,
"dbsnp": "rs9901673",
"frequency_reference_population": 0.16391438,
"hom_count_reference_population": 22331,
"allele_count_reference_population": 264487,
"gnomad_exomes_af": 0.164566,
"gnomad_genomes_af": 0.157641,
"gnomad_exomes_ac": 240535,
"gnomad_genomes_ac": 23952,
"gnomad_exomes_homalt": 20378,
"gnomad_genomes_homalt": 1953,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016418695449829102,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03200000151991844,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0726,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.846,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000083830463429305,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000250092.11",
"gene_symbol": "CD68",
"hgnc_id": 1693,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Gln254Lys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000581621.1",
"gene_symbol": "ENSG00000264772",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3736C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}