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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: 20-13435116-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13435116&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TASP1",
"hgnc_id": 15859,
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_017714.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9887694120407104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_017714.3",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337743.9",
"protein_coding": true,
"protein_id": "NP_060184.2",
"strand": false,
"transcript": "NM_017714.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000337743.9",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017714.3",
"protein_coding": true,
"protein_id": "ENSP00000338624.4",
"strand": false,
"transcript": "ENST00000337743.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 450,
"aa_ref": "G",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000961261.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1114G>C",
"hgvs_p": "p.Gly372Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631320.1",
"strand": false,
"transcript": "ENST00000961261.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861004.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531063.1",
"strand": false,
"transcript": "ENST00000861004.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861007.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531066.1",
"strand": false,
"transcript": "ENST00000861007.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861008.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531067.1",
"strand": false,
"transcript": "ENST00000861008.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1152,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939534.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609593.1",
"strand": false,
"transcript": "ENST00000939534.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1098,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939535.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609594.1",
"strand": false,
"transcript": "ENST00000939535.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 353,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1062,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961257.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631316.1",
"strand": false,
"transcript": "ENST00000961257.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 957,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001323603.2",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.718G>C",
"hgvs_p": "p.Gly240Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310532.1",
"strand": false,
"transcript": "NM_001323603.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 957,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001323604.2",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.718G>C",
"hgvs_p": "p.Gly240Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310533.1",
"strand": false,
"transcript": "NM_001323604.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 831,
"cds_end": null,
"cds_length": 957,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000861006.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.718G>C",
"hgvs_p": "p.Gly240Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531065.1",
"strand": false,
"transcript": "ENST00000861006.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 744,
"cds_end": null,
"cds_length": 870,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323602.2",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Gly211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310531.1",
"strand": false,
"transcript": "NM_001323602.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 758,
"cds_end": null,
"cds_length": 870,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861005.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Gly211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531064.1",
"strand": false,
"transcript": "ENST00000861005.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 821,
"cds_end": null,
"cds_length": 870,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939537.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Gly211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609596.1",
"strand": false,
"transcript": "ENST00000939537.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 784,
"cds_end": null,
"cds_length": 870,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961260.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Gly211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631319.1",
"strand": false,
"transcript": "ENST00000961260.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 653,
"cds_end": null,
"cds_length": 792,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961258.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631317.1",
"strand": false,
"transcript": "ENST00000961258.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 606,
"cds_end": null,
"cds_length": 750,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961259.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Gly171Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631318.1",
"strand": false,
"transcript": "ENST00000961259.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047440267.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296223.1",
"strand": false,
"transcript": "XM_047440267.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047440268.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296224.1",
"strand": false,
"transcript": "XM_047440268.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 397,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16860,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1194,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047440269.1",
"gene_hgnc_id": 15859,
"gene_symbol": "TASP1",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Gly342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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