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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: 6-26463432-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26463432&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26463432,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000312541.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "NM_007049.5",
"protein_id": "NP_008980.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 527,
"cds_start": 619,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": "ENST00000312541.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000312541.10",
"protein_id": "ENSP00000312158.5",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 527,
"cds_start": 619,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": "NM_007049.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000429381.5",
"protein_id": "ENSP00000416945.1",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 334,
"cds_start": 619,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000469185.5",
"protein_id": "ENSP00000419043.1",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 330,
"cds_start": 619,
"cds_end": null,
"cds_length": 993,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Met",
"transcript": "NM_001197233.3",
"protein_id": "NP_001184162.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 466,
"cds_start": 436,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Met",
"transcript": "ENST00000541522.5",
"protein_id": "ENSP00000443909.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 466,
"cds_start": 436,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "NM_078476.4",
"protein_id": "NP_510961.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 334,
"cds_start": 619,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "NM_001197234.3",
"protein_id": "NP_001184163.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 330,
"cds_start": 619,
"cds_end": null,
"cds_length": 993,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1701,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "n.*264G>A",
"hgvs_p": null,
"transcript": "ENST00000377600.7",
"protein_id": "ENSP00000366825.2",
"transcript_support_level": 5,
"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": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "n.*264G>A",
"hgvs_p": null,
"transcript": "ENST00000377600.7",
"protein_id": "ENSP00000366825.2",
"transcript_support_level": 5,
"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": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291336",
"gene_hgnc_id": null,
"hgvs_c": "n.1000-89755G>A",
"hgvs_p": null,
"transcript": "ENST00000707189.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291338",
"gene_hgnc_id": null,
"hgvs_c": "n.1001-69273G>A",
"hgvs_p": null,
"transcript": "ENST00000707191.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1753,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.*179G>A",
"hgvs_p": null,
"transcript": "ENST00000493173.1",
"protein_id": "ENSP00000420447.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"dbsnp": "rs13195509",
"frequency_reference_population": 0.09070609,
"hom_count_reference_population": 8099,
"allele_count_reference_population": 146396,
"gnomad_exomes_af": 0.0936042,
"gnomad_genomes_af": 0.0628785,
"gnomad_exomes_ac": 136824,
"gnomad_genomes_ac": 9572,
"gnomad_exomes_homalt": 7709,
"gnomad_genomes_homalt": 390,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001780867576599121,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.1234,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.061,
"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": "ENST00000312541.10",
"gene_symbol": "BTN2A1",
"hgnc_id": 1136,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000707189.1",
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1000-89755G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000707191.1",
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001-69273G>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
}