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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: 2-174750122-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174750122&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174750122,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000348749.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Phe276Leu",
"transcript": "NM_000079.4",
"protein_id": "NP_000070.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 457,
"cds_start": 826,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": "ENST00000348749.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Phe276Leu",
"transcript": "ENST00000348749.9",
"protein_id": "ENSP00000261008.5",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 457,
"cds_start": 826,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": "NM_000079.4",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.321+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000442996.1",
"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": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Phe301Leu",
"transcript": "NM_001039523.3",
"protein_id": "NP_001034612.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 482,
"cds_start": 901,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Phe301Leu",
"transcript": "ENST00000261007.9",
"protein_id": "ENSP00000261007.5",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 482,
"cds_start": 901,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Phe276Leu",
"transcript": "ENST00000409219.5",
"protein_id": "ENSP00000386611.1",
"transcript_support_level": 3,
"aa_start": 276,
"aa_end": null,
"aa_length": 377,
"cds_start": 826,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.580T>C",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000409542.5",
"protein_id": "ENSP00000387026.1",
"transcript_support_level": 3,
"aa_start": 194,
"aa_end": null,
"aa_length": 375,
"cds_start": 580,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.337T>C",
"hgvs_p": "p.Phe113Leu",
"transcript": "ENST00000636168.2",
"protein_id": "ENSP00000490338.2",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 294,
"cds_start": 337,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.337T>C",
"hgvs_p": "p.Phe113Leu",
"transcript": "ENST00000672640.1",
"protein_id": "ENSP00000500507.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 294,
"cds_start": 337,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Phe308Leu",
"transcript": "XM_017003256.2",
"protein_id": "XP_016858745.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 489,
"cds_start": 922,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "c.847T>C",
"hgvs_p": "p.Phe283Leu",
"transcript": "XM_017003257.2",
"protein_id": "XP_016858746.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 464,
"cds_start": 847,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2134,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "n.*470T>C",
"hgvs_p": null,
"transcript": "ENST00000435083.5",
"protein_id": "ENSP00000395805.1",
"transcript_support_level": 3,
"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": 1596,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"hgvs_c": "n.*470T>C",
"hgvs_p": null,
"transcript": "ENST00000435083.5",
"protein_id": "ENSP00000395805.1",
"transcript_support_level": 3,
"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": 1596,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.326+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000842845.1",
"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": 823,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.212+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000842846.1",
"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": 1139,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.319+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000842847.1",
"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": 1246,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.469+4820A>G",
"hgvs_p": null,
"transcript": "ENST00000842848.1",
"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": 1396,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.231+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000842849.1",
"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": 1158,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.368+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000842853.1",
"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": 1295,
"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": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.135+20298A>G",
"hgvs_p": null,
"transcript": "ENST00000842854.1",
"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": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRNA1",
"gene_hgnc_id": 1955,
"dbsnp": "rs137852806",
"frequency_reference_population": 6.8406376e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84064e-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": 0.9678919911384583,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.95,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.322,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000348749.9",
"gene_symbol": "CHRNA1",
"hgnc_id": 1955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Phe276Leu"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000442996.1",
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.321+20298A>G",
"hgvs_p": null
}
],
"clinvar_disease": " 1B, congenital, fast-channel,Myasthenic syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myasthenic syndrome, congenital, 1B, fast-channel",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}