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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: 21-31671689-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31671689&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31671689,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020706.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3154C>T",
"hgvs_p": "p.Arg1052Cys",
"transcript": "NM_020706.2",
"protein_id": "NP_065757.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3154,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286835.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020706.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3154C>T",
"hgvs_p": "p.Arg1052Cys",
"transcript": "ENST00000286835.12",
"protein_id": "ENSP00000286835.7",
"transcript_support_level": 1,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3154,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020706.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286835.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3109C>T",
"hgvs_p": "p.Arg1037Cys",
"transcript": "ENST00000434667.3",
"protein_id": "ENSP00000402377.2",
"transcript_support_level": 1,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434667.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3088C>T",
"hgvs_p": "p.Arg1030Cys",
"transcript": "ENST00000399804.5",
"protein_id": "ENSP00000382703.1",
"transcript_support_level": 1,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399804.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Arg1051Cys",
"transcript": "ENST00000908758.1",
"protein_id": "ENSP00000578817.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908758.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3148C>T",
"hgvs_p": "p.Arg1050Cys",
"transcript": "ENST00000908762.1",
"protein_id": "ENSP00000578821.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3148,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908762.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049Cys",
"transcript": "ENST00000931674.1",
"protein_id": "ENSP00000601733.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931674.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Cys",
"transcript": "ENST00000908761.1",
"protein_id": "ENSP00000578820.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908761.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3136C>T",
"hgvs_p": "p.Arg1046Cys",
"transcript": "ENST00000949917.1",
"protein_id": "ENSP00000619976.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949917.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3109C>T",
"hgvs_p": "p.Arg1037Cys",
"transcript": "NM_001145444.1",
"protein_id": "NP_001138916.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145444.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3088C>T",
"hgvs_p": "p.Arg1030Cys",
"transcript": "NM_001145445.1",
"protein_id": "NP_001138917.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145445.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3085C>T",
"hgvs_p": "p.Arg1029Cys",
"transcript": "ENST00000908760.1",
"protein_id": "ENSP00000578819.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3085,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908760.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3082C>T",
"hgvs_p": "p.Arg1028Cys",
"transcript": "ENST00000908759.1",
"protein_id": "ENSP00000578818.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3082,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908759.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3076C>T",
"hgvs_p": "p.Arg1026Cys",
"transcript": "ENST00000908756.1",
"protein_id": "ENSP00000578815.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3076,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908756.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Arg1018Cys",
"transcript": "ENST00000931675.1",
"protein_id": "ENSP00000601734.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931675.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Arg1015Cys",
"transcript": "ENST00000908765.1",
"protein_id": "ENSP00000578824.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908765.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2977C>T",
"hgvs_p": "p.Arg993Cys",
"transcript": "ENST00000908757.1",
"protein_id": "ENSP00000578816.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908757.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Arg992Cys",
"transcript": "ENST00000908763.1",
"protein_id": "ENSP00000578822.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908763.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Cys",
"transcript": "ENST00000908764.1",
"protein_id": "ENSP00000578823.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908764.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2911C>T",
"hgvs_p": "p.Arg971Cys",
"transcript": "ENST00000908755.1",
"protein_id": "ENSP00000578814.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908755.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Cys",
"transcript": "ENST00000931676.1",
"protein_id": "ENSP00000601735.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 898,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931676.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Cys",
"transcript": "XM_006724035.4",
"protein_id": "XP_006724098.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3142,
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.4577132761478424,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.889,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
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"effects": [
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],
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}