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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: 3-122106350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122106350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122106350,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000330540.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Val185Ile",
"transcript": "NM_175862.5",
"protein_id": "NP_787058.5",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 329,
"cds_start": 553,
"cds_end": null,
"cds_length": 990,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": "ENST00000330540.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Val185Ile",
"transcript": "ENST00000330540.7",
"protein_id": "ENSP00000332049.2",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 329,
"cds_start": 553,
"cds_end": null,
"cds_length": 990,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": "NM_175862.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "ENST00000393627.6",
"protein_id": "ENSP00000377248.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 323,
"cds_start": 535,
"cds_end": null,
"cds_length": 972,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "NM_006889.5",
"protein_id": "NP_008820.4",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 323,
"cds_start": 535,
"cds_end": null,
"cds_length": 972,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Val180Ile",
"transcript": "ENST00000478741.1",
"protein_id": "ENSP00000417195.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 276,
"cds_start": 538,
"cds_end": null,
"cds_length": 831,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "NM_176892.2",
"protein_id": "NP_795711.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 275,
"cds_start": 535,
"cds_end": null,
"cds_length": 828,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "ENST00000264468.9",
"protein_id": "ENSP00000264468.6",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 275,
"cds_start": 535,
"cds_end": null,
"cds_length": 828,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Val103Ile",
"transcript": "NM_001206925.2",
"protein_id": "NP_001193854.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 247,
"cds_start": 307,
"cds_end": null,
"cds_length": 744,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Val103Ile",
"transcript": "ENST00000469710.5",
"protein_id": "ENSP00000418988.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 247,
"cds_start": 307,
"cds_end": null,
"cds_length": 744,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "NM_001206924.2",
"protein_id": "NP_001193853.2",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 217,
"cds_start": 217,
"cds_end": null,
"cds_length": 654,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "ENST00000493101.5",
"protein_id": "ENSP00000420230.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 217,
"cds_start": 217,
"cds_end": null,
"cds_length": 654,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"hgvs_c": "c.*32G>A",
"hgvs_p": null,
"transcript": "ENST00000482356.5",
"protein_id": "ENSP00000419116.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD86",
"gene_hgnc_id": 1705,
"dbsnp": "rs2681417",
"frequency_reference_population": 0.91883683,
"hom_count_reference_population": 684103,
"allele_count_reference_population": 1482863,
"gnomad_exomes_af": 0.924761,
"gnomad_genomes_af": 0.861927,
"gnomad_exomes_ac": 1351707,
"gnomad_genomes_ac": 131156,
"gnomad_exomes_homalt": 626537,
"gnomad_genomes_homalt": 57566,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 7.770001388962555e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0673,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.1,
"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": -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": "ENST00000330540.7",
"gene_symbol": "CD86",
"hgnc_id": 1705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Val185Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}