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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: 1-161674008-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161674008&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161674008,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000358671.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "NM_001394477.1",
"protein_id": "NP_001381406.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 310,
"cds_start": 695,
"cds_end": null,
"cds_length": 933,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": "ENST00000358671.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "ENST00000358671.10",
"protein_id": "ENSP00000351497.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 310,
"cds_start": 695,
"cds_end": null,
"cds_length": 933,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": "NM_001394477.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.674T>A",
"hgvs_p": "p.Ile225Asn",
"transcript": "ENST00000367961.8",
"protein_id": "ENSP00000356938.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 303,
"cds_start": 674,
"cds_end": null,
"cds_length": 912,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "ENST00000236937.13",
"protein_id": "ENSP00000236937.9",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 291,
"cds_start": 695,
"cds_end": null,
"cds_length": 876,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1440,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "n.745T>A",
"hgvs_p": null,
"transcript": "ENST00000480308.5",
"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": 4680,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "n.2063T>A",
"hgvs_p": null,
"transcript": "ENST00000485778.1",
"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": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "NM_004001.5",
"protein_id": "NP_003992.3",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 310,
"cds_start": 695,
"cds_end": null,
"cds_length": 933,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.692T>A",
"hgvs_p": "p.Ile231Asn",
"transcript": "NM_001002275.3",
"protein_id": "NP_001002275.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 309,
"cds_start": 692,
"cds_end": null,
"cds_length": 930,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.674T>A",
"hgvs_p": "p.Ile225Asn",
"transcript": "NM_001190828.2",
"protein_id": "NP_001177757.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 303,
"cds_start": 674,
"cds_end": null,
"cds_length": 912,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Ile224Asn",
"transcript": "NM_001386000.1",
"protein_id": "NP_001372929.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 302,
"cds_start": 671,
"cds_end": null,
"cds_length": 909,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "NM_001002274.3",
"protein_id": "NP_001002274.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 291,
"cds_start": 695,
"cds_end": null,
"cds_length": 876,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.692T>A",
"hgvs_p": "p.Ile231Asn",
"transcript": "NM_001002273.3",
"protein_id": "NP_001002273.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 290,
"cds_start": 692,
"cds_end": null,
"cds_length": 873,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.674T>A",
"hgvs_p": "p.Ile225Asn",
"transcript": "NM_001386001.1",
"protein_id": "NP_001372930.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 284,
"cds_start": 674,
"cds_end": null,
"cds_length": 855,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Ile224Asn",
"transcript": "NM_001386002.1",
"protein_id": "NP_001372931.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 283,
"cds_start": 671,
"cds_end": null,
"cds_length": 852,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "NM_001386003.1",
"protein_id": "NP_001372932.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 273,
"cds_start": 695,
"cds_end": null,
"cds_length": 822,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Ile224Asn",
"transcript": "NM_001386004.1",
"protein_id": "NP_001372933.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 265,
"cds_start": 671,
"cds_end": null,
"cds_length": 798,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn",
"transcript": "NM_001386005.1",
"protein_id": "NP_001372934.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 254,
"cds_start": 695,
"cds_end": null,
"cds_length": 765,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.674T>A",
"hgvs_p": "p.Ile225Asn",
"transcript": "NM_001386006.1",
"protein_id": "NP_001372935.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 247,
"cds_start": 674,
"cds_end": null,
"cds_length": 744,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234211",
"gene_hgnc_id": null,
"hgvs_c": "n.180A>T",
"hgvs_p": null,
"transcript": "ENST00000626340.1",
"protein_id": null,
"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": 758,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "n.924T>A",
"hgvs_p": null,
"transcript": "NR_169827.1",
"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": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234211",
"gene_hgnc_id": null,
"hgvs_c": "n.197+620A>T",
"hgvs_p": null,
"transcript": "ENST00000453111.1",
"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": 394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"dbsnp": "rs1050501",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41412660479545593,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.5702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.74,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000358671.10",
"gene_symbol": "FCGR2B",
"hgnc_id": 3618,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Ile232Asn"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000626340.1",
"gene_symbol": "ENSG00000234211",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.180A>T",
"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
}