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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: 19-12949150-ACG-CGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12949150&ref=ACG&alt=CGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RAD23A",
"hgnc_id": 9812,
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005053.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1092,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005053.4",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000586534.6",
"protein_coding": true,
"protein_id": "NP_005044.1",
"strand": true,
"transcript": "NM_005053.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1092,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586534.6",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005053.4",
"protein_coding": true,
"protein_id": "ENSP00000467024.1",
"strand": true,
"transcript": "ENST00000586534.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1089,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316856.7",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321365.3",
"strand": true,
"transcript": "ENST00000316856.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1089,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270362.2",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257291.1",
"strand": true,
"transcript": "NM_001270362.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 361,
"aa_ref": "T",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1086,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875551.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.664_666delACGinsCGT",
"hgvs_p": "p.Thr222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545610.1",
"strand": true,
"transcript": "ENST00000875551.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 361,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1086,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925763.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595822.1",
"strand": true,
"transcript": "ENST00000925763.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "T",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1083,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875552.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.664_666delACGinsCGT",
"hgvs_p": "p.Thr222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545611.1",
"strand": true,
"transcript": "ENST00000875552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 356,
"aa_ref": "T",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1071,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875556.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.649_651delACGinsCGT",
"hgvs_p": "p.Thr217Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545615.1",
"strand": true,
"transcript": "ENST00000875556.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "T",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1068,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943230.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.649_651delACGinsCGT",
"hgvs_p": "p.Thr217Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613289.1",
"strand": true,
"transcript": "ENST00000943230.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1059,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875559.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545618.1",
"strand": true,
"transcript": "ENST00000875559.1",
"transcript_support_level": null
},
{
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"aa_length": 349,
"aa_ref": "T",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1050,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925765.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.628_630delACGinsCGT",
"hgvs_p": "p.Thr210Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595824.1",
"strand": true,
"transcript": "ENST00000925765.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 348,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1252,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1047,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875557.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.628_630delACGinsCGT",
"hgvs_p": "p.Thr210Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545616.1",
"strand": true,
"transcript": "ENST00000875557.1",
"transcript_support_level": null
},
{
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"aa_length": 341,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1026,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943231.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.607_609delACGinsCGT",
"hgvs_p": "p.Thr203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613290.1",
"strand": true,
"transcript": "ENST00000943231.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1017,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875550.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545609.1",
"strand": true,
"transcript": "ENST00000875550.1",
"transcript_support_level": null
},
{
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"aa_length": 337,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1014,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875558.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545617.1",
"strand": true,
"transcript": "ENST00000875558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "T",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 635,
"cds_end": null,
"cds_length": 981,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875554.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.559_561delACGinsCGT",
"hgvs_p": "p.Thr187Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545613.1",
"strand": true,
"transcript": "ENST00000875554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "T",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 639,
"cds_end": null,
"cds_length": 978,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875553.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.559_561delACGinsCGT",
"hgvs_p": "p.Thr187Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545612.1",
"strand": true,
"transcript": "ENST00000875553.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 313,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 607,
"cds_end": null,
"cds_length": 942,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925764.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.520_522delACGinsCGT",
"hgvs_p": "p.Thr174Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595823.1",
"strand": true,
"transcript": "ENST00000925764.1",
"transcript_support_level": null
},
{
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"aa_length": 312,
"aa_ref": "T",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 621,
"cds_end": null,
"cds_length": 939,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875555.1",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.520_522delACGinsCGT",
"hgvs_p": "p.Thr174Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545614.1",
"strand": true,
"transcript": "ENST00000875555.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 757,
"cds_end": null,
"cds_length": 927,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270363.2",
"gene_hgnc_id": 9812,
"gene_symbol": "RAD23A",
"hgvs_c": "c.670_672delACGinsCGT",
"hgvs_p": "p.Thr224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257292.1",
"strand": true,
"transcript": "NM_001270363.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1526,
"cdna_start": 727,
"cds_end": null,
"cds_length": 927,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592268.5",
"gene_hgnc_id": 9812,
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