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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: 18-3457609-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3457609&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TGIF1",
"hgnc_id": 11776,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Pro177Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_173207.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 94881,
"alphamissense_prediction": null,
"alphamissense_score": 0.0891,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "18",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Holoprosencephaly 4,Holoprosencephaly sequence,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0017831921577453613,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": 806,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003244.4",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343820.10",
"protein_coding": true,
"protein_id": "NP_003235.1",
"strand": true,
"transcript": "NM_003244.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": 806,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000343820.10",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003244.4",
"protein_coding": true,
"protein_id": "ENSP00000339631.6",
"strand": true,
"transcript": "ENST00000343820.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000330513.10",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327959.6",
"strand": true,
"transcript": "ENST00000330513.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "P",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 728,
"cds_end": null,
"cds_length": 861,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_173207.4",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Pro177Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775299.1",
"strand": true,
"transcript": "NM_173207.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "P",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 661,
"cds_end": null,
"cds_length": 861,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000618001.4",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Pro177Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483499.1",
"strand": true,
"transcript": "ENST00000618001.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 561,
"cds_end": null,
"cds_length": 828,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278682.2",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265611.1",
"strand": true,
"transcript": "NM_001278682.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001278684.2",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265613.1",
"strand": true,
"transcript": "NM_001278684.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_173208.3",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775300.1",
"strand": true,
"transcript": "NM_173208.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 845,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000407501.6",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384133.2",
"strand": true,
"transcript": "ENST00000407501.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870197.1",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540256.1",
"strand": true,
"transcript": "ENST00000870197.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000870198.1",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540257.1",
"strand": true,
"transcript": "ENST00000870198.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 736,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927544.1",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597603.1",
"strand": true,
"transcript": "ENST00000927544.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 741,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001278686.3",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265615.1",
"strand": true,
"transcript": "NM_001278686.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 581,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374396.1",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361325.1",
"strand": true,
"transcript": "NM_001374396.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 651,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374397.1",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361326.1",
"strand": true,
"transcript": "NM_001374397.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3631,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_170695.5",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_733796.3",
"strand": true,
"transcript": "NM_170695.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 836,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_173209.3",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775301.1",
"strand": true,
"transcript": "NM_173209.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 655,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_173210.4",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775302.1",
"strand": true,
"transcript": "NM_173210.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 555,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_173211.2",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775303.1",
"strand": true,
"transcript": "NM_173211.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 791,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_174886.3",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_777480.1",
"strand": true,
"transcript": "NM_174886.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 574,
"cds_end": null,
"cds_length": 759,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000345133.9",
"gene_hgnc_id": 11776,
"gene_symbol": "TGIF1",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"intron_rank": null,
"intron_rank_end": null,
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