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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: 11-82849977-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=82849977&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 82849977,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_199418.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Gly230Cys",
"transcript": "NM_005040.4",
"protein_id": "NP_005031.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 496,
"cds_start": 688,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313010.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005040.4"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Gly230Cys",
"transcript": "ENST00000313010.8",
"protein_id": "ENSP00000317362.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 496,
"cds_start": 688,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313010.8"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Gly251Cys",
"transcript": "NM_199418.4",
"protein_id": "NP_955450.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 517,
"cds_start": 751,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199418.4"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Gly251Cys",
"transcript": "ENST00000393399.6",
"protein_id": "ENSP00000377055.2",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 517,
"cds_start": 751,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393399.6"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Gly230Cys",
"transcript": "ENST00000949391.1",
"protein_id": "ENSP00000619450.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 461,
"cds_start": 688,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949391.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.526G>T",
"hgvs_p": "p.Gly176Cys",
"transcript": "ENST00000532809.2",
"protein_id": "ENSP00000437169.2",
"transcript_support_level": 3,
"aa_start": 176,
"aa_end": null,
"aa_length": 442,
"cds_start": 526,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532809.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Gly230Cys",
"transcript": "ENST00000913715.1",
"protein_id": "ENSP00000583774.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 406,
"cds_start": 688,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913715.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "NM_001319214.2",
"protein_id": "NP_001306143.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319214.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000531801.6",
"protein_id": "ENSP00000432004.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531801.6"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000534264.2",
"protein_id": "ENSP00000436095.2",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534264.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000679387.1",
"protein_id": "ENSP00000506058.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679387.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000679623.1",
"protein_id": "ENSP00000506508.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679623.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000680566.1",
"protein_id": "ENSP00000505064.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680566.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000681637.1",
"protein_id": "ENSP00000506101.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681637.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000534631.5",
"protein_id": "ENSP00000431559.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 191,
"cds_start": 373,
"cds_end": null,
"cds_length": 578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534631.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000531128.5",
"protein_id": "ENSP00000431435.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 146,
"cds_start": 373,
"cds_end": null,
"cds_length": 443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531128.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "ENST00000534396.5",
"protein_id": "ENSP00000432506.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 144,
"cds_start": 373,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534396.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.373G>T",
"hgvs_p": "p.Gly125Cys",
"transcript": "XM_005274093.2",
"protein_id": "XP_005274150.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 391,
"cds_start": 373,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274093.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.309+10000G>T",
"hgvs_p": null,
"transcript": "ENST00000680437.1",
"protein_id": "ENSP00000505089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.-183-10552G>T",
"hgvs_p": null,
"transcript": "ENST00000680524.1",
"protein_id": "ENSP00000506464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "n.968G>T",
"hgvs_p": null,
"transcript": "ENST00000524642.6",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524642.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "n.716G>T",
"hgvs_p": null,
"transcript": "ENST00000527444.6",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527444.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.808,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_199418.4",
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"effects": [
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"inheritance_mode": "AR",
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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
}