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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: 11-76990562-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76990562&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76990562,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000532485.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.426G>C",
"hgvs_p": "p.Pro142Pro",
"transcript": "NM_018367.7",
"protein_id": "NP_060837.3",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 267,
"cds_start": 426,
"cds_end": null,
"cds_length": 804,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": "ENST00000532485.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.426G>C",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000532485.6",
"protein_id": "ENSP00000434480.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 267,
"cds_start": 426,
"cds_end": null,
"cds_length": 804,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": "NM_018367.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*266G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*378G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*307G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*266G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*378G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*307G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.426G>C",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000679754.1",
"protein_id": "ENSP00000505416.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 274,
"cds_start": 426,
"cds_end": null,
"cds_length": 825,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.315G>C",
"hgvs_p": "p.Pro105Pro",
"transcript": "NM_001300953.2",
"protein_id": "NP_001287882.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 230,
"cds_start": 315,
"cds_end": null,
"cds_length": 693,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 7222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.315G>C",
"hgvs_p": "p.Pro105Pro",
"transcript": "ENST00000533873.1",
"protein_id": "ENSP00000436252.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 230,
"cds_start": 315,
"cds_end": null,
"cds_length": 693,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.300G>C",
"hgvs_p": "p.Pro100Pro",
"transcript": "ENST00000534206.5",
"protein_id": "ENSP00000435733.1",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 204,
"cds_start": 300,
"cds_end": null,
"cds_length": 615,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Pro47Pro",
"transcript": "NM_001300954.2",
"protein_id": "NP_001287883.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 172,
"cds_start": 141,
"cds_end": null,
"cds_length": 519,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 7404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Pro47Pro",
"transcript": "NM_001300955.2",
"protein_id": "NP_001287884.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 172,
"cds_start": 141,
"cds_end": null,
"cds_length": 519,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000526597.5",
"protein_id": "ENSP00000431149.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 172,
"cds_start": 141,
"cds_end": null,
"cds_length": 519,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000680583.1",
"protein_id": "ENSP00000505842.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 172,
"cds_start": 141,
"cds_end": null,
"cds_length": 519,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.426G>C",
"hgvs_p": "p.Pro142Pro",
"transcript": "XM_011545151.3",
"protein_id": "XP_011543453.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 233,
"cds_start": 426,
"cds_end": null,
"cds_length": 702,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.300G>C",
"hgvs_p": "p.Pro100Pro",
"transcript": "XM_011545152.3",
"protein_id": "XP_011543454.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 225,
"cds_start": 300,
"cds_end": null,
"cds_length": 678,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.426G>C",
"hgvs_p": "p.Pro142Pro",
"transcript": "XM_017017987.2",
"protein_id": "XP_016873476.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 170,
"cds_start": 426,
"cds_end": null,
"cds_length": 513,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.426G>C",
"hgvs_p": "p.Pro142Pro",
"transcript": "XM_047427235.1",
"protein_id": "XP_047283191.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 165,
"cds_start": 426,
"cds_end": null,
"cds_length": 498,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*305G>C",
"hgvs_p": null,
"transcript": "ENST00000525861.5",
"protein_id": "ENSP00000432379.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.3071G>C",
"hgvs_p": null,
"transcript": "ENST00000527508.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.468G>C",
"hgvs_p": null,
"transcript": "ENST00000530182.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
"transcript": "ENST00000532485.6",
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"effects": [
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"inheritance_mode": "Unknown,AR",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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"gene_symbol": "ACER3-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}