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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: 20-36590980-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36590980&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TGIF2",
"hgnc_id": 15764,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_021809.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TGIF2-RAB5IF",
"hgnc_id": 44664,
"hgvs_c": "c.192+12014C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001199535.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9971,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.814486026763916,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 446,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_021809.7",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373872.9",
"protein_coding": true,
"protein_id": "NP_068581.1",
"strand": true,
"transcript": "NM_021809.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 446,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373872.9",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021809.7",
"protein_coding": true,
"protein_id": "ENSP00000362979.3",
"strand": true,
"transcript": "ENST00000373872.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 918,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558530.1",
"gene_hgnc_id": 44664,
"gene_symbol": "TGIF2-RAB5IF",
"hgvs_c": "c.192+12014C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454021.1",
"strand": true,
"transcript": "ENST00000558530.1",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 358,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199513.2",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186442.1",
"strand": true,
"transcript": "NM_001199513.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 353,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199514.2",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186443.1",
"strand": true,
"transcript": "NM_001199514.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 418,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199515.2",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186444.1",
"strand": true,
"transcript": "NM_001199515.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 462,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373874.6",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362981.2",
"strand": true,
"transcript": "ENST00000373874.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 379,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000611732.4",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481787.1",
"strand": true,
"transcript": "ENST00000611732.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 509,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000650844.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498657.1",
"strand": true,
"transcript": "ENST00000650844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3345,
"cdna_start": 375,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874678.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544737.1",
"strand": true,
"transcript": "ENST00000874678.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 381,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874679.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544738.1",
"strand": true,
"transcript": "ENST00000874679.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 582,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874680.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544739.1",
"strand": true,
"transcript": "ENST00000874680.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 492,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874681.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544740.1",
"strand": true,
"transcript": "ENST00000874681.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 958,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000874682.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544741.1",
"strand": true,
"transcript": "ENST00000874682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914035.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584094.1",
"strand": true,
"transcript": "ENST00000914035.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 446,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914036.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584095.1",
"strand": true,
"transcript": "ENST00000914036.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 520,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914037.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584096.1",
"strand": true,
"transcript": "ENST00000914037.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6142,
"cdna_start": 3179,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914038.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584097.1",
"strand": true,
"transcript": "ENST00000914038.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 506,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914039.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584098.1",
"strand": true,
"transcript": "ENST00000914039.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 570,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914040.1",
"gene_hgnc_id": 15764,
"gene_symbol": "TGIF2",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584099.1",
"strand": true,
"transcript": "ENST00000914040.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 716,
"cds_end": null,
"cds_length": 714,
"cds_start": 263,
"consequences": [
"missense_variant"
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