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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: 11-85707430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85707430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85707430,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_206927.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.6017G>A",
"hgvs_p": "p.Arg2006Gln",
"transcript": "NM_206927.4",
"protein_id": "NP_996810.2",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2239,
"cds_start": 6017,
"cds_end": null,
"cds_length": 6720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359152.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206927.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.6017G>A",
"hgvs_p": "p.Arg2006Gln",
"transcript": "ENST00000359152.10",
"protein_id": "ENSP00000352065.7",
"transcript_support_level": 1,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2239,
"cds_start": 6017,
"cds_end": null,
"cds_length": 6720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359152.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2102G>A",
"hgvs_p": "p.Arg701Gln",
"transcript": "ENST00000528231.5",
"protein_id": "ENSP00000431701.1",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 934,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528231.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677Gln",
"transcript": "ENST00000389960.8",
"protein_id": "ENSP00000374610.4",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 910,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389960.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "ENST00000525702.5",
"protein_id": "ENSP00000432996.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 376,
"cds_start": 428,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525702.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.4640G>A",
"hgvs_p": null,
"transcript": "ENST00000525423.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525423.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000532995.5",
"protein_id": "ENSP00000436678.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532995.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000532995.5",
"protein_id": "ENSP00000436678.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532995.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.6014G>A",
"hgvs_p": "p.Arg2005Gln",
"transcript": "NM_001394447.1",
"protein_id": "NP_001381376.1",
"transcript_support_level": null,
"aa_start": 2005,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6014,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394447.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5969G>A",
"hgvs_p": "p.Arg1990Gln",
"transcript": "NM_001394448.1",
"protein_id": "NP_001381377.1",
"transcript_support_level": null,
"aa_start": 1990,
"aa_end": null,
"aa_length": 2223,
"cds_start": 5969,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394448.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5969G>A",
"hgvs_p": "p.Arg1990Gln",
"transcript": "NM_001394449.1",
"protein_id": "NP_001381378.1",
"transcript_support_level": null,
"aa_start": 1990,
"aa_end": null,
"aa_length": 2223,
"cds_start": 5969,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394449.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5969G>A",
"hgvs_p": "p.Arg1990Gln",
"transcript": "ENST00000634661.1",
"protein_id": "ENSP00000489269.1",
"transcript_support_level": 5,
"aa_start": 1990,
"aa_end": null,
"aa_length": 2223,
"cds_start": 5969,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634661.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5966G>A",
"hgvs_p": "p.Arg1989Gln",
"transcript": "NM_206928.4",
"protein_id": "NP_996811.2",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5966,
"cds_end": null,
"cds_length": 6669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206928.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5936G>A",
"hgvs_p": "p.Arg1979Gln",
"transcript": "NM_001394473.1",
"protein_id": "NP_001381402.1",
"transcript_support_level": null,
"aa_start": 1979,
"aa_end": null,
"aa_length": 2212,
"cds_start": 5936,
"cds_end": null,
"cds_length": 6639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394473.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5888G>A",
"hgvs_p": "p.Arg1963Gln",
"transcript": "NM_001394450.1",
"protein_id": "NP_001381379.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2196,
"cds_start": 5888,
"cds_end": null,
"cds_length": 6591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394450.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5885G>A",
"hgvs_p": "p.Arg1962Gln",
"transcript": "NM_001394451.1",
"protein_id": "NP_001381380.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2195,
"cds_start": 5885,
"cds_end": null,
"cds_length": 6588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394451.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Arg718Gln",
"transcript": "NM_001394453.1",
"protein_id": "NP_001381382.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 951,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394453.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Arg718Gln",
"transcript": "NM_001394454.1",
"protein_id": "NP_001381383.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 951,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394454.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"transcript": "NM_001394455.1",
"protein_id": "NP_001381384.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 950,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394455.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"transcript": "NM_001394456.1",
"protein_id": "NP_001381385.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 950,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394456.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Gln",
"transcript": "NM_001162953.4",
"protein_id": "NP_001156425.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 935,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162953.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
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{
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{
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],
"gene_symbol": "SYTL2",
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"dbsnp": "rs770339928",
"frequency_reference_population": 0.0000130724,
"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.731941819190979,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6759999990463257,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3014,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.018,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206927.4",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}