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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: 7-66092022-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66092022&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66092022,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000048.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "NM_000048.4",
"protein_id": "NP_000039.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 464,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": "ENST00000304874.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000048.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000304874.14",
"protein_id": "ENSP00000307188.9",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 464,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": "NM_000048.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304874.14"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000395332.8",
"protein_id": "ENSP00000378741.3",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 464,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395332.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249319",
"gene_hgnc_id": null,
"hgvs_c": "c.392T>C",
"hgvs_p": "p.Met131Thr",
"transcript": "ENST00000450043.2",
"protein_id": "ENSP00000396527.2",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 306,
"cds_start": 392,
"cds_end": null,
"cds_length": 922,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450043.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Met391Thr",
"transcript": "ENST00000906815.1",
"protein_id": "ENSP00000576874.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 495,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906815.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1109T>C",
"hgvs_p": "p.Met370Thr",
"transcript": "ENST00000906826.1",
"protein_id": "ENSP00000576885.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 474,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906826.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1109T>C",
"hgvs_p": "p.Met370Thr",
"transcript": "ENST00000906828.1",
"protein_id": "ENSP00000576887.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 474,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906828.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1106T>C",
"hgvs_p": "p.Met369Thr",
"transcript": "ENST00000952733.1",
"protein_id": "ENSP00000622792.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 473,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952733.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "NM_001024943.2",
"protein_id": "NP_001020114.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 464,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024943.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000906801.1",
"protein_id": "ENSP00000576860.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 464,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906801.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1076T>C",
"hgvs_p": "p.Met359Thr",
"transcript": "ENST00000906807.1",
"protein_id": "ENSP00000576866.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 463,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906807.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000906823.1",
"protein_id": "ENSP00000576882.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 459,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906823.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1034T>C",
"hgvs_p": "p.Met345Thr",
"transcript": "ENST00000906824.1",
"protein_id": "ENSP00000576883.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 449,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906824.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1022T>C",
"hgvs_p": "p.Met341Thr",
"transcript": "ENST00000952732.1",
"protein_id": "ENSP00000622791.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 445,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952732.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1019T>C",
"hgvs_p": "p.Met340Thr",
"transcript": "NM_001024944.2",
"protein_id": "NP_001020115.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 444,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024944.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1019T>C",
"hgvs_p": "p.Met340Thr",
"transcript": "ENST00000395331.4",
"protein_id": "ENSP00000378740.3",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 444,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395331.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1019T>C",
"hgvs_p": "p.Met340Thr",
"transcript": "ENST00000906808.1",
"protein_id": "ENSP00000576867.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 444,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906808.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1001T>C",
"hgvs_p": "p.Met334Thr",
"transcript": "NM_001024946.2",
"protein_id": "NP_001020117.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 438,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024946.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1001T>C",
"hgvs_p": "p.Met334Thr",
"transcript": "ENST00000380839.9",
"protein_id": "ENSP00000370219.4",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 438,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380839.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1001T>C",
"hgvs_p": "p.Met334Thr",
"transcript": "ENST00000673518.1",
"protein_id": "ENSP00000499889.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 438,
"cds_start": 1001,
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"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673518.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1001T>C",
"hgvs_p": "p.Met334Thr",
"transcript": "ENST00000906800.1",
"protein_id": "ENSP00000576859.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 438,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906800.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1001T>C",
"hgvs_p": "p.Met334Thr",
"transcript": "ENST00000906825.1",
"protein_id": "ENSP00000576884.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 438,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1249,
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"alphamissense_score": 0.3545,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.074,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000048.4",
"gene_symbol": "ASL",
"hgnc_id": 746,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000450043.2",
"gene_symbol": "ENSG00000249319",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.392T>C",
"hgvs_p": "p.Met131Thr"
}
],
"clinvar_disease": "Argininosuccinate lyase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Argininosuccinate lyase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}