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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: 8-61503433-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61503433&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 61503433,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000379454.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "NM_004318.4",
"protein_id": "NP_004309.2",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 758,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "ENST00000379454.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "ENST00000379454.9",
"protein_id": "ENSP00000368767.4",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 758,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "NM_004318.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Arg762Trp",
"transcript": "NM_001413844.1",
"protein_id": "NP_001400773.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 785,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2248C>T",
"hgvs_p": "p.Arg750Trp",
"transcript": "NM_001413845.1",
"protein_id": "NP_001400774.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 773,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 5346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Arg749Trp",
"transcript": "NM_001413846.1",
"protein_id": "NP_001400775.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 772,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2227C>T",
"hgvs_p": "p.Arg743Trp",
"transcript": "NM_001413847.1",
"protein_id": "NP_001400776.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 766,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2206C>T",
"hgvs_p": "p.Arg736Trp",
"transcript": "NM_001413848.1",
"protein_id": "NP_001400777.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 759,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "NM_001413849.1",
"protein_id": "NP_001400778.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 758,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "NM_001413850.1",
"protein_id": "NP_001400779.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 757,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "NM_001413851.1",
"protein_id": "NP_001400780.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 757,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2191C>T",
"hgvs_p": "p.Arg731Trp",
"transcript": "NM_001413852.1",
"protein_id": "NP_001400781.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 754,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2188C>T",
"hgvs_p": "p.Arg730Trp",
"transcript": "NM_001413853.1",
"protein_id": "NP_001400782.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 753,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Trp",
"transcript": "NM_001413854.1",
"protein_id": "NP_001400783.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 744,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Trp",
"transcript": "NM_001413855.1",
"protein_id": "NP_001400784.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 744,
"cds_start": 2161,
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"cdna_start": 2382,
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"cdna_length": 5259,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Trp",
"transcript": "NM_001413856.1",
"protein_id": "NP_001400785.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 744,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"transcript": "NM_001413857.1",
"protein_id": "NP_001400786.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
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"cds_start": 2158,
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"cdna_start": 2379,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2155C>T",
"hgvs_p": "p.Arg719Trp",
"transcript": "NM_001413858.1",
"protein_id": "NP_001400787.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 742,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2155C>T",
"hgvs_p": "p.Arg719Trp",
"transcript": "NM_001413859.1",
"protein_id": "NP_001400788.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 742,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Arg716Trp",
"transcript": "NM_001413860.1",
"protein_id": "NP_001400789.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
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"cds_start": 2146,
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"cdna_start": 2367,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2143C>T",
"hgvs_p": "p.Arg715Trp",
"transcript": "NM_001413861.1",
"protein_id": "NP_001400790.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 738,
"cds_start": 2143,
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"cdna_start": 2364,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp",
"transcript": "NM_001413862.1",
"protein_id": "NP_001400791.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 733,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"transcript": "NM_001413863.1",
"protein_id": "NP_001400792.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 730,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
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}
],
"gene_symbol": "ASPH",
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"dbsnp": "rs374385878",
"frequency_reference_population": 0.00002603973,
"hom_count_reference_population": 0,
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"computational_score_selected": 0.9570349454879761,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.933,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.309,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 10,
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"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000379454.9",
"gene_symbol": "ASPH",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp"
}
],
"clinvar_disease": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,Thoracic aortic aneurysm or dissection",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome|Thoracic aortic aneurysm or dissection",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}