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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: 8-27463370-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27463370&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27463370,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000407991.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"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.1073G>T",
"hgvs_p": "p.Ser358Ile",
"transcript": "NM_000742.4",
"protein_id": "NP_000733.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 529,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": "ENST00000407991.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.1073G>T",
"hgvs_p": "p.Ser358Ile",
"transcript": "ENST00000407991.3",
"protein_id": "ENSP00000385026.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 529,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1647,
"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.*475G>T",
"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.*475G>T",
"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.290-1616G>T",
"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": "S",
"aa_alt": "I",
"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.1028G>T",
"hgvs_p": "p.Ser343Ile",
"transcript": "NM_001282455.2",
"protein_id": "NP_001269384.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 514,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.1028G>T",
"hgvs_p": "p.Ser343Ile",
"transcript": "ENST00000240132.7",
"protein_id": "ENSP00000240132.2",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 514,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.1007G>T",
"hgvs_p": "p.Ser336Ile",
"transcript": "ENST00000520933.7",
"protein_id": "ENSP00000429616.2",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 507,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.596G>T",
"hgvs_p": "p.Ser199Ile",
"transcript": "NM_001347705.2",
"protein_id": "NP_001334634.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 370,
"cds_start": 596,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.596G>T",
"hgvs_p": "p.Ser199Ile",
"transcript": "NM_001347706.2",
"protein_id": "NP_001334635.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 370,
"cds_start": 596,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.479G>T",
"hgvs_p": "p.Ser160Ile",
"transcript": "NM_001347707.2",
"protein_id": "NP_001334636.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 331,
"cds_start": 479,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.479G>T",
"hgvs_p": "p.Ser160Ile",
"transcript": "NM_001347708.2",
"protein_id": "NP_001334637.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 331,
"cds_start": 479,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.1073G>T",
"hgvs_p": "p.Ser358Ile",
"transcript": "XM_047421311.1",
"protein_id": "XP_047277267.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 529,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.1073G>T",
"hgvs_p": "p.Ser358Ile",
"transcript": "XM_047421312.1",
"protein_id": "XP_047277268.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 529,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.1073G>T",
"hgvs_p": "p.Ser358Ile",
"transcript": "XM_047421313.1",
"protein_id": "XP_047277269.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 529,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1451,
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"hgvs_c": "n.*903G>T",
"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
}
],
"gene_symbol": "CHRNA2",
"gene_hgnc_id": 1956,
"dbsnp": "rs74341575",
"frequency_reference_population": 0.000045228404,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000437827,
"gnomad_genomes_af": 0.0000591071,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30546650290489197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.546,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.075,
"phylop100way_prediction": "Uncertain_significance",
"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_benign",
"acmg_criteria": "BP4,BP6,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000407991.3",
"gene_symbol": "CHRNA2",
"hgnc_id": 1956,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1073G>T",
"hgvs_p": "p.Ser358Ile"
}
],
"clinvar_disease": "Autosomal dominant nocturnal frontal lobe epilepsy,Autosomal dominant nocturnal frontal lobe epilepsy 4,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:1",
"phenotype_combined": "not provided|Autosomal dominant nocturnal frontal lobe epilepsy|Autosomal dominant nocturnal frontal lobe epilepsy 4|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}