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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: 7-81961993-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=81961993&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 81961993,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366867.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2867C>A",
"hgvs_p": "p.Ser956Tyr",
"transcript": "NM_000722.4",
"protein_id": "NP_000713.2",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356860.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000722.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2867C>A",
"hgvs_p": "p.Ser956Tyr",
"transcript": "ENST00000356860.8",
"protein_id": "ENSP00000349320.3",
"transcript_support_level": 1,
"aa_start": 956,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000722.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356860.8"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2903C>A",
"hgvs_p": "p.Ser968Tyr",
"transcript": "NM_001366867.1",
"protein_id": "NP_001353796.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366867.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2903C>A",
"hgvs_p": "p.Ser968Tyr",
"transcript": "ENST00000443883.2",
"protein_id": "ENSP00000409374.2",
"transcript_support_level": 5,
"aa_start": 968,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443883.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2888C>A",
"hgvs_p": "p.Ser963Tyr",
"transcript": "ENST00000957014.1",
"protein_id": "ENSP00000627073.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957014.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2846C>A",
"hgvs_p": "p.Ser949Tyr",
"transcript": "ENST00000855771.1",
"protein_id": "ENSP00000525830.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855771.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2792C>A",
"hgvs_p": "p.Ser931Tyr",
"transcript": "ENST00000957016.1",
"protein_id": "ENSP00000627075.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957016.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2747C>A",
"hgvs_p": "p.Ser916Tyr",
"transcript": "ENST00000705962.1",
"protein_id": "ENSP00000516190.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705962.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2693C>A",
"hgvs_p": "p.Ser898Tyr",
"transcript": "ENST00000957017.1",
"protein_id": "ENSP00000627076.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957017.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2633C>A",
"hgvs_p": "p.Ser878Tyr",
"transcript": "ENST00000705961.1",
"protein_id": "ENSP00000516189.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2633,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705961.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2567C>A",
"hgvs_p": "p.Ser856Tyr",
"transcript": "ENST00000957015.1",
"protein_id": "ENSP00000627074.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 991,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957015.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2924C>A",
"hgvs_p": "p.Ser975Tyr",
"transcript": "XM_006716118.4",
"protein_id": "XP_006716181.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716118.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2924C>A",
"hgvs_p": "p.Ser975Tyr",
"transcript": "XM_011516570.4",
"protein_id": "XP_011514872.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516570.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Ser970Tyr",
"transcript": "XM_011516571.4",
"protein_id": "XP_011514873.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516571.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2903C>A",
"hgvs_p": "p.Ser968Tyr",
"transcript": "XM_047420819.1",
"protein_id": "XP_047276775.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420819.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2888C>A",
"hgvs_p": "p.Ser963Tyr",
"transcript": "XM_011516572.4",
"protein_id": "XP_011514874.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516572.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2852C>A",
"hgvs_p": "p.Ser951Tyr",
"transcript": "XM_005250572.4",
"protein_id": "XP_005250629.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250572.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2852C>A",
"hgvs_p": "p.Ser951Tyr",
"transcript": "XM_047420820.1",
"protein_id": "XP_047276776.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420820.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2846C>A",
"hgvs_p": "p.Ser949Tyr",
"transcript": "XM_005250573.4",
"protein_id": "XP_005250630.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250573.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2846C>A",
"hgvs_p": "p.Ser949Tyr",
"transcript": "XM_047420821.1",
"protein_id": "XP_047276777.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420821.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2831C>A",
"hgvs_p": "p.Ser944Tyr",
"transcript": "XM_005250574.4",
"protein_id": "XP_005250631.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250574.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2831C>A",
"hgvs_p": "p.Ser944Tyr",
"transcript": "XM_047420822.1",
"protein_id": "XP_047276778.1",
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"aa_start": 944,
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{
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],
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"computational_score_selected": 0.5789679884910583,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001366867.1",
"gene_symbol": "CACNA2D1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
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],
"clinvar_disease": "Brugada syndrome,Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Cardiovascular phenotype|Brugada syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}