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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: 3-179250846-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179250846&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179250846,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014407.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Ala49Thr",
"transcript": "NM_171830.2",
"protein_id": "NP_741981.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": "ENST00000392685.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171830.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Ala49Thr",
"transcript": "ENST00000392685.7",
"protein_id": "ENSP00000376451.2",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": "NM_171830.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392685.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr",
"transcript": "ENST00000314235.9",
"protein_id": "ENSP00000319370.5",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 279,
"cds_start": 157,
"cds_end": null,
"cds_length": 840,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314235.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "ENST00000485523.5",
"protein_id": "ENSP00000418536.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 91,
"cds_end": null,
"cds_length": 774,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 7246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485523.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "n.91G>A",
"hgvs_p": null,
"transcript": "ENST00000392686.6",
"protein_id": "ENSP00000376452.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000392686.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr",
"transcript": "NM_014407.3",
"protein_id": "NP_055222.3",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 279,
"cds_start": 157,
"cds_end": null,
"cds_length": 840,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014407.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Ala51Thr",
"transcript": "NM_171828.3",
"protein_id": "NP_741979.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 277,
"cds_start": 151,
"cds_end": null,
"cds_length": 834,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171828.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Ala51Thr",
"transcript": "ENST00000349697.2",
"protein_id": "ENSP00000327866.2",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 277,
"cds_start": 151,
"cds_end": null,
"cds_length": 834,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349697.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Ala31Thr",
"transcript": "NM_171829.3",
"protein_id": "NP_741980.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 257,
"cds_start": 91,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171829.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Ala51Thr",
"transcript": "NM_001163677.2",
"protein_id": "NP_001157149.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 173,
"cds_start": 151,
"cds_end": null,
"cds_length": 522,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163677.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Ala51Thr",
"transcript": "ENST00000497599.5",
"protein_id": "ENSP00000417091.1",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 173,
"cds_start": 151,
"cds_end": null,
"cds_length": 522,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497599.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"hgvs_c": "n.1033G>A",
"hgvs_p": null,
"transcript": "NR_028135.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028135.2"
}
],
"gene_symbol": "KCNMB3",
"gene_hgnc_id": 6287,
"dbsnp": "rs7645550",
"frequency_reference_population": 0.37610716,
"hom_count_reference_population": 116715,
"allele_count_reference_population": 606967,
"gnomad_exomes_af": 0.377103,
"gnomad_genomes_af": 0.366535,
"gnomad_exomes_ac": 551239,
"gnomad_genomes_ac": 55728,
"gnomad_exomes_homalt": 106284,
"gnomad_genomes_homalt": 10431,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023398756980895996,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.1216,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.626,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014407.3",
"gene_symbol": "KCNMB3",
"hgnc_id": 6287,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}