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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: 8-27463391-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27463391&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27463391,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000407991.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Asn351Thr",
"transcript": "NM_000742.4",
"protein_id": "NP_000733.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 529,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": "ENST00000407991.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Asn351Thr",
"transcript": "ENST00000407991.3",
"protein_id": "ENSP00000385026.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 529,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": "NM_000742.4",
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.*454A>C",
"hgvs_p": null,
"transcript": "ENST00000523695.5",
"protein_id": "ENSP00000430612.1",
"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": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.*454A>C",
"hgvs_p": null,
"transcript": "ENST00000523695.5",
"protein_id": "ENSP00000430612.1",
"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": 2515,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.290-1637A>C",
"hgvs_p": null,
"transcript": "ENST00000520600.1",
"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": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1007A>C",
"hgvs_p": "p.Asn336Thr",
"transcript": "NM_001282455.2",
"protein_id": "NP_001269384.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 514,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1007A>C",
"hgvs_p": "p.Asn336Thr",
"transcript": "ENST00000240132.7",
"protein_id": "ENSP00000240132.2",
"transcript_support_level": 2,
"aa_start": 336,
"aa_end": null,
"aa_length": 514,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.986A>C",
"hgvs_p": "p.Asn329Thr",
"transcript": "ENST00000520933.7",
"protein_id": "ENSP00000429616.2",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 507,
"cds_start": 986,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.575A>C",
"hgvs_p": "p.Asn192Thr",
"transcript": "NM_001347705.2",
"protein_id": "NP_001334634.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 370,
"cds_start": 575,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.575A>C",
"hgvs_p": "p.Asn192Thr",
"transcript": "NM_001347706.2",
"protein_id": "NP_001334635.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 370,
"cds_start": 575,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Asn153Thr",
"transcript": "NM_001347707.2",
"protein_id": "NP_001334636.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 331,
"cds_start": 458,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Asn153Thr",
"transcript": "NM_001347708.2",
"protein_id": "NP_001334637.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 331,
"cds_start": 458,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Asn351Thr",
"transcript": "XM_047421311.1",
"protein_id": "XP_047277267.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 529,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Asn351Thr",
"transcript": "XM_047421312.1",
"protein_id": "XP_047277268.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 529,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Asn351Thr",
"transcript": "XM_047421313.1",
"protein_id": "XP_047277269.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 529,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.*882A>C",
"hgvs_p": null,
"transcript": "ENST00000637241.1",
"protein_id": "ENSP00000490690.1",
"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": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.*882A>C",
"hgvs_p": null,
"transcript": "ENST00000637241.1",
"protein_id": "ENSP00000490690.1",
"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": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.*237A>C",
"hgvs_p": null,
"transcript": "ENST00000522008.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"dbsnp": "rs770305730",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9457583427429199,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.813,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000407991.3",
"gene_symbol": "CHRNA2",
"hgnc_id": 1956,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Asn351Thr"
}
],
"clinvar_disease": "Autosomal dominant nocturnal frontal lobe epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal dominant nocturnal frontal lobe epilepsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}