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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: 3-39098745-CC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39098745&ref=CC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GORASP1",
"hgnc_id": 16769,
"hgvs_c": "c.1064_1065delGGinsCT",
"hgvs_p": "p.Arg355Pro",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_031899.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "P",
"aa_end": null,
"aa_length": 440,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031899.4",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1064_1065delGGinsCT",
"hgvs_p": "p.Arg355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319283.8",
"protein_coding": true,
"protein_id": "NP_114105.1",
"strand": false,
"transcript": "NM_031899.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 440,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319283.8",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1064_1065delGGinsCT",
"hgvs_p": "p.Arg355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031899.4",
"protein_coding": true,
"protein_id": "ENSP00000313869.3",
"strand": false,
"transcript": "ENST00000319283.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000452389.7",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "n.*375_*376delGGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403167.2",
"strand": false,
"transcript": "ENST00000452389.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000453680.6",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "n.*64_*65delGGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392020.1",
"strand": false,
"transcript": "ENST00000453680.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000452389.7",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "n.*375_*376delGGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403167.2",
"strand": false,
"transcript": "ENST00000452389.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000453680.6",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "n.*64_*65delGGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392020.1",
"strand": false,
"transcript": "ENST00000453680.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437458.4",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1184_1185delGGinsCT",
"hgvs_p": "p.Arg395Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392993.2",
"strand": false,
"transcript": "ENST00000437458.4",
"transcript_support_level": 4
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695426.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1109_1110delGGinsCT",
"hgvs_p": "p.Arg370Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511909.1",
"strand": false,
"transcript": "ENST00000695426.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882005.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1085_1086delGGinsCT",
"hgvs_p": "p.Arg362Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552064.1",
"strand": false,
"transcript": "ENST00000882005.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957148.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1073_1074delGGinsCT",
"hgvs_p": "p.Arg358Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627207.1",
"strand": false,
"transcript": "ENST00000957148.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441081.2",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1058_1059delGGinsCT",
"hgvs_p": "p.Arg353Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411104.2",
"strand": false,
"transcript": "ENST00000441081.2",
"transcript_support_level": 4
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695428.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1058_1059delGGinsCT",
"hgvs_p": "p.Arg353Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511910.1",
"strand": false,
"transcript": "ENST00000695428.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1049,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695591.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1049_1050delGGinsCT",
"hgvs_p": "p.Arg350Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512043.1",
"strand": false,
"transcript": "ENST00000695591.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882004.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1064_1065delGGinsCT",
"hgvs_p": "p.Arg355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552063.1",
"strand": false,
"transcript": "ENST00000882004.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925760.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.1007_1008delGGinsCT",
"hgvs_p": "p.Arg336Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595819.1",
"strand": false,
"transcript": "ENST00000925760.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1245,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695424.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.986_987delGGinsCT",
"hgvs_p": "p.Arg329Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511907.1",
"strand": false,
"transcript": "ENST00000695424.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1233,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410726.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.974_975delGGinsCT",
"hgvs_p": "p.Arg325Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397655.1",
"strand": false,
"transcript": "NM_001410726.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1233,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695414.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.974_975delGGinsCT",
"hgvs_p": "p.Arg325Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511895.1",
"strand": false,
"transcript": "ENST00000695414.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1230,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695442.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.971_972delGGinsCT",
"hgvs_p": "p.Arg324Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511915.1",
"strand": false,
"transcript": "ENST00000695442.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 405,
"aa_ref": "R",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1218,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881996.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
"hgvs_c": "c.959_960delGGinsCT",
"hgvs_p": "p.Arg320Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552055.1",
"strand": false,
"transcript": "ENST00000881996.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1212,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925759.1",
"gene_hgnc_id": 16769,
"gene_symbol": "GORASP1",
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