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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: 11-76926636-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76926636&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76926636,
"ref": "GC",
"alt": "AT",
"effect": "missense_variant",
"transcript": "NM_018367.7",
"consequences": [
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "NM_018367.7",
"protein_id": "NP_060837.3",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 267,
"cds_start": 183,
"cds_end": null,
"cds_length": 804,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": "ENST00000532485.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018367.7"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000532485.6",
"protein_id": "ENSP00000434480.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 267,
"cds_start": 183,
"cds_end": null,
"cds_length": 804,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": "NM_018367.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532485.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.183_184delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000278544.9",
"protein_id": "ENSP00000278544.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000278544.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*64_*65delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000525194.5",
"protein_id": "ENSP00000432109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525194.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*64_*65delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000531352.5",
"protein_id": "ENSP00000431504.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531352.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*64_*65delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000525194.5",
"protein_id": "ENSP00000432109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525194.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*64_*65delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000531352.5",
"protein_id": "ENSP00000431504.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531352.5"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000679754.1",
"protein_id": "ENSP00000505416.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 274,
"cds_start": 183,
"cds_end": null,
"cds_length": 825,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679754.1"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000880917.1",
"protein_id": "ENSP00000550976.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 255,
"cds_start": 183,
"cds_end": null,
"cds_length": 768,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880917.1"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000880916.1",
"protein_id": "ENSP00000550975.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 233,
"cds_start": 183,
"cds_end": null,
"cds_length": 702,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880916.1"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000880918.1",
"protein_id": "ENSP00000550977.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 208,
"cds_start": 183,
"cds_end": null,
"cds_length": 627,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880918.1"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.57_58delGCinsAT",
"hgvs_p": "p.Arg20Trp",
"transcript": "ENST00000534206.5",
"protein_id": "ENSP00000435733.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 204,
"cds_start": 57,
"cds_end": null,
"cds_length": 615,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534206.5"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000923238.1",
"protein_id": "ENSP00000593297.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 198,
"cds_start": 183,
"cds_end": null,
"cds_length": 597,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923238.1"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "ENST00000923237.1",
"protein_id": "ENSP00000593296.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 174,
"cds_start": 183,
"cds_end": null,
"cds_length": 525,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923237.1"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "XM_011545151.3",
"protein_id": "XP_011543453.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 233,
"cds_start": 183,
"cds_end": null,
"cds_length": 702,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545151.3"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.57_58delGCinsAT",
"hgvs_p": "p.Arg20Trp",
"transcript": "XM_011545152.3",
"protein_id": "XP_011543454.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 225,
"cds_start": 57,
"cds_end": null,
"cds_length": 678,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545152.3"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "XM_017017987.2",
"protein_id": "XP_016873476.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 170,
"cds_start": 183,
"cds_end": null,
"cds_length": 513,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017987.2"
},
{
"aa_ref": "KR",
"aa_alt": "KW",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp",
"transcript": "XM_047427235.1",
"protein_id": "XP_047283191.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 165,
"cds_start": 183,
"cds_end": null,
"cds_length": 498,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.-174_-173delGCinsAT",
"hgvs_p": null,
"transcript": "NM_001300954.2",
"protein_id": "NP_001287883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300954.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.-50_-49delGCinsAT",
"hgvs_p": null,
"transcript": "NM_001300955.2",
"protein_id": "NP_001287884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300955.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.-174_-173delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000526597.5",
"protein_id": "ENSP00000431149.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.-50_-49delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000680583.1",
"protein_id": "ENSP00000505842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
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"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.942,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_018367.7",
"gene_symbol": "ACER3",
"hgnc_id": 16066,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.183_184delGCinsAT",
"hgvs_p": "p.Arg62Trp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}