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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: 11-77016682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77016682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77016682,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000532485.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203*",
"transcript": "NM_018367.7",
"protein_id": "NP_060837.3",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 607,
"cds_end": null,
"cds_length": 804,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": "ENST00000532485.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203*",
"transcript": "ENST00000532485.6",
"protein_id": "ENSP00000434480.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 607,
"cds_end": null,
"cds_length": 804,
"cdna_start": 666,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*447C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*630C>T",
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*488C>T",
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*447C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*630C>T",
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*488C>T",
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210*",
"transcript": "ENST00000679754.1",
"protein_id": "ENSP00000505416.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 274,
"cds_start": 628,
"cds_end": null,
"cds_length": 825,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"transcript": "NM_001300953.2",
"protein_id": "NP_001287882.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 230,
"cds_start": 496,
"cds_end": null,
"cds_length": 693,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 7222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"transcript": "ENST00000533873.1",
"protein_id": "ENSP00000436252.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 230,
"cds_start": 496,
"cds_end": null,
"cds_length": 693,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161*",
"transcript": "ENST00000534206.5",
"protein_id": "ENSP00000435733.1",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 204,
"cds_start": 481,
"cds_end": null,
"cds_length": 615,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108*",
"transcript": "NM_001300954.2",
"protein_id": "NP_001287883.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 172,
"cds_start": 322,
"cds_end": null,
"cds_length": 519,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 7404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108*",
"transcript": "NM_001300955.2",
"protein_id": "NP_001287884.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 172,
"cds_start": 322,
"cds_end": null,
"cds_length": 519,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108*",
"transcript": "ENST00000526597.5",
"protein_id": "ENSP00000431149.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 172,
"cds_start": 322,
"cds_end": null,
"cds_length": 519,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108*",
"transcript": "ENST00000680583.1",
"protein_id": "ENSP00000505842.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 172,
"cds_start": 322,
"cds_end": null,
"cds_length": 519,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169*",
"transcript": "XM_011545151.3",
"protein_id": "XP_011543453.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 233,
"cds_start": 505,
"cds_end": null,
"cds_length": 702,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161*",
"transcript": "XM_011545152.3",
"protein_id": "XP_011543454.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 225,
"cds_start": 481,
"cds_end": null,
"cds_length": 678,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 7320,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.378C>T",
"hgvs_p": null,
"transcript": "ENST00000525325.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 560,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*557C>T",
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.*329C>T",
"hgvs_p": null,
"transcript": "ENST00000531461.5",
"protein_id": "ENSP00000433368.1",
"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": 1292,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.1691C>T",
"hgvs_p": null,
"transcript": "ENST00000679759.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5440,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER3",
"gene_hgnc_id": 16066,
"hgvs_c": "n.670C>T",
"hgvs_p": null,
"transcript": "ENST00000679813.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3424,
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],
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"dbsnp": "rs782709009",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.585,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000532485.6",
"gene_symbol": "ACER3",
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"effects": [
"stop_gained"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203*"
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{
"score": 8,
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"criteria": [
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"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000804914.1",
"gene_symbol": "ACER3-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Alkaline ceramidase 3 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Alkaline ceramidase 3 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}