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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: 2-47005981-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47005981&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TTC7A",
"hgnc_id": 19750,
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001288951.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9513,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Multiple gastrointestinal atresias",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.735674262046814,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_020458.4",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319190.11",
"protein_coding": true,
"protein_id": "NP_065191.2",
"strand": true,
"transcript": "NM_020458.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000319190.11",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020458.4",
"protein_coding": true,
"protein_id": "ENSP00000316699.5",
"strand": true,
"transcript": "ENST00000319190.11",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 882,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000394850.6",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378320.2",
"strand": true,
"transcript": "ENST00000394850.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409825.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*874C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386521.1",
"strand": true,
"transcript": "ENST00000409825.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000441914.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.964C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393022.1",
"strand": true,
"transcript": "ENST00000441914.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000484061.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.408C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484061.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000491786.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.529C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491786.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409825.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*874C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386521.1",
"strand": true,
"transcript": "ENST00000409825.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 901,
"aa_ref": "S",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2706,
"cds_start": 1254,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956434.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1254C>A",
"hgvs_p": "p.Ser418Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626493.1",
"strand": true,
"transcript": "ENST00000956434.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 882,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001288951.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275880.1",
"strand": true,
"transcript": "NM_001288951.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 882,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956433.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626492.1",
"strand": true,
"transcript": "ENST00000956433.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 850,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895463.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565522.1",
"strand": true,
"transcript": "ENST00000895463.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 840,
"aa_ref": "S",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895461.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1071C>A",
"hgvs_p": "p.Ser357Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565520.1",
"strand": true,
"transcript": "ENST00000895461.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001288953.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1023C>A",
"hgvs_p": "p.Ser341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275882.1",
"strand": true,
"transcript": "NM_001288953.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409245.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1023C>A",
"hgvs_p": "p.Ser341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386307.1",
"strand": true,
"transcript": "ENST00000409245.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 819,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895460.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565519.1",
"strand": true,
"transcript": "ENST00000895460.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 813,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895464.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565523.1",
"strand": true,
"transcript": "ENST00000895464.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 775,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895465.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565524.1",
"strand": true,
"transcript": "ENST00000895465.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 774,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895466.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565525.1",
"strand": true,
"transcript": "ENST00000895466.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 758,
"aa_ref": "S",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2277,
"cds_start": 825,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895462.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Ser275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565521.1",
"strand": true,
"transcript": "ENST00000895462.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 730,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4706,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937409.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1125C>A",
"hgvs_p": "p.Ser375Arg",
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"phenotype_combined": "Multiple gastrointestinal atresias",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.729,
"pos": 47005981,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.242,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001288951.2"
}
]
}