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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: 11-85698035-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85698035&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYTL2",
"hgnc_id": 15585,
"hgvs_c": "c.6312G>C",
"hgvs_p": "p.Lys2104Asn",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_206927.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9927,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7861801385879517,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2239,
"aa_ref": "K",
"aa_start": 2104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 6889,
"cds_end": null,
"cds_length": 6720,
"cds_start": 6312,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_206927.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6312G>C",
"hgvs_p": "p.Lys2104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359152.10",
"protein_coding": true,
"protein_id": "NP_996810.2",
"strand": false,
"transcript": "NM_206927.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2239,
"aa_ref": "K",
"aa_start": 2104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 6889,
"cds_end": null,
"cds_length": 6720,
"cds_start": 6312,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000359152.10",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6312G>C",
"hgvs_p": "p.Lys2104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206927.4",
"protein_coding": true,
"protein_id": "ENSP00000352065.7",
"strand": false,
"transcript": "ENST00000359152.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 934,
"aa_ref": "K",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2397,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000528231.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2397G>C",
"hgvs_p": "p.Lys799Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431701.1",
"strand": false,
"transcript": "ENST00000528231.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 910,
"aa_ref": "K",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2325,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000389960.8",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2325G>C",
"hgvs_p": "p.Lys775Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374610.4",
"strand": false,
"transcript": "ENST00000389960.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 376,
"aa_ref": "K",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1131,
"cds_start": 723,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000525702.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.723G>C",
"hgvs_p": "p.Lys241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432996.1",
"strand": false,
"transcript": "ENST00000525702.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000525423.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.4935G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000525423.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000532995.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.*413G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436678.1",
"strand": false,
"transcript": "ENST00000532995.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000532995.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.*413G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436678.1",
"strand": false,
"transcript": "ENST00000532995.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2238,
"aa_ref": "K",
"aa_start": 2103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8260,
"cdna_start": 6886,
"cds_end": null,
"cds_length": 6717,
"cds_start": 6309,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001394447.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6309G>C",
"hgvs_p": "p.Lys2103Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381376.1",
"strand": false,
"transcript": "NM_001394447.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2223,
"aa_ref": "K",
"aa_start": 2088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8215,
"cdna_start": 6841,
"cds_end": null,
"cds_length": 6672,
"cds_start": 6264,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001394448.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6264G>C",
"hgvs_p": "p.Lys2088Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381377.1",
"strand": false,
"transcript": "NM_001394448.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2223,
"aa_ref": "K",
"aa_start": 2088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8315,
"cdna_start": 6941,
"cds_end": null,
"cds_length": 6672,
"cds_start": 6264,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001394449.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6264G>C",
"hgvs_p": "p.Lys2088Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381378.1",
"strand": false,
"transcript": "NM_001394449.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2223,
"aa_ref": "K",
"aa_start": 2088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6672,
"cdna_start": 6264,
"cds_end": null,
"cds_length": 6672,
"cds_start": 6264,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000634661.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6264G>C",
"hgvs_p": "p.Lys2088Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489269.1",
"strand": false,
"transcript": "ENST00000634661.1",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2222,
"aa_ref": "K",
"aa_start": 2087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8212,
"cdna_start": 6838,
"cds_end": null,
"cds_length": 6669,
"cds_start": 6261,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_206928.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6261G>C",
"hgvs_p": "p.Lys2087Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996811.2",
"strand": false,
"transcript": "NM_206928.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2212,
"aa_ref": "K",
"aa_start": 2077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 6808,
"cds_end": null,
"cds_length": 6639,
"cds_start": 6231,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001394473.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6231G>C",
"hgvs_p": "p.Lys2077Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381402.1",
"strand": false,
"transcript": "NM_001394473.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2196,
"aa_ref": "K",
"aa_start": 2061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8134,
"cdna_start": 6760,
"cds_end": null,
"cds_length": 6591,
"cds_start": 6183,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001394450.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6183G>C",
"hgvs_p": "p.Lys2061Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381379.1",
"strand": false,
"transcript": "NM_001394450.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2195,
"aa_ref": "K",
"aa_start": 2060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8131,
"cdna_start": 6757,
"cds_end": null,
"cds_length": 6588,
"cds_start": 6180,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001394451.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6180G>C",
"hgvs_p": "p.Lys2060Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381380.1",
"strand": false,
"transcript": "NM_001394451.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2035,
"aa_ref": "K",
"aa_start": 1900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7651,
"cdna_start": 6277,
"cds_end": null,
"cds_length": 6108,
"cds_start": 5700,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001394452.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.5700G>C",
"hgvs_p": "p.Lys1900Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381381.1",
"strand": false,
"transcript": "NM_001394452.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 951,
"aa_ref": "K",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4717,
"cdna_start": 3343,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2448,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001394453.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2448G>C",
"hgvs_p": "p.Lys816Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381382.1",
"strand": false,
"transcript": "NM_001394453.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 951,
"aa_ref": "K",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4399,
"cdna_start": 3025,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001394454.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2448G>C",
"hgvs_p": "p.Lys816Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381383.1",
"strand": false,
"transcript": "NM_001394454.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 950,
"aa_ref": "K",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": 3022,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2445,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001394455.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2445G>C",
"hgvs_p": "p.Lys815Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381384.1",
"strand": false,
"transcript": "NM_001394455.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 950,
"aa_ref": "K",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 2977,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2445,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001394456.1",
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