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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: 2-47060818-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47060818&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTC7A",
"hgnc_id": 19750,
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Ile758Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001288951.2",
"verdict": "Benign"
},
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STPG4",
"hgnc_id": 26850,
"hgvs_c": "n.416-13899G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -18,
"transcript": "ENST00000496939.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 15042,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "Multiple gastrointestinal atresias,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.2800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 858,
"aa_ref": "I",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 2520,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2202,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_020458.4",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2202C>T",
"hgvs_p": "p.Ile734Ile",
"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": "I",
"aa_end": null,
"aa_length": 858,
"aa_ref": "I",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 2520,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2202,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000319190.11",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2202C>T",
"hgvs_p": "p.Ile734Ile",
"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": "I",
"aa_end": null,
"aa_length": 882,
"aa_ref": "I",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2274,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000394850.6",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Ile758Ile",
"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": 20,
"exon_rank_end": null,
"feature": "ENST00000409825.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*1951C>T",
"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": 18,
"exon_rank_end": null,
"feature": "ENST00000441914.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*1051C>T",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000484061.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1309C>T",
"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": 15,
"exon_rank_end": null,
"feature": "ENST00000491786.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1606C>T",
"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": 20,
"exon_rank_end": null,
"feature": "ENST00000409825.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*1951C>T",
"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": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000441914.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*1051C>T",
"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": "I",
"aa_end": null,
"aa_length": 901,
"aa_ref": "I",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 2646,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2331,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000956434.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2331C>T",
"hgvs_p": "p.Ile777Ile",
"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": "I",
"aa_end": null,
"aa_length": 882,
"aa_ref": "I",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2274,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001288951.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Ile758Ile",
"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": "I",
"aa_end": null,
"aa_length": 882,
"aa_ref": "I",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 2571,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2274,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000956433.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Ile758Ile",
"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": "I",
"aa_end": null,
"aa_length": 850,
"aa_ref": "I",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 2494,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2178,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895463.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2178C>T",
"hgvs_p": "p.Ile726Ile",
"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": "I",
"aa_end": null,
"aa_length": 840,
"aa_ref": "I",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2148,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895461.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2148C>T",
"hgvs_p": "p.Ile716Ile",
"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": "I",
"aa_end": null,
"aa_length": 824,
"aa_ref": "I",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 2824,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2100,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001288953.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2100C>T",
"hgvs_p": "p.Ile700Ile",
"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": "I",
"aa_end": null,
"aa_length": 824,
"aa_ref": "I",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2100,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000409245.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2100C>T",
"hgvs_p": "p.Ile700Ile",
"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": "I",
"aa_end": null,
"aa_length": 819,
"aa_ref": "I",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895460.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2085C>T",
"hgvs_p": "p.Ile695Ile",
"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": "I",
"aa_end": null,
"aa_length": 813,
"aa_ref": "I",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2067,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895464.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2067C>T",
"hgvs_p": "p.Ile689Ile",
"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": "I",
"aa_end": null,
"aa_length": 784,
"aa_ref": "I",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1980,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000937410.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1980C>T",
"hgvs_p": "p.Ile660Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607469.1",
"strand": true,
"transcript": "ENST00000937410.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 775,
"aa_ref": "I",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1953,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000895465.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1953C>T",
"hgvs_p": "p.Ile651Ile",
"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
},
{
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}