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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: 2-121367825-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=121367825&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 121367825,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001395891.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3712C>T",
"hgvs_p": "p.Arg1238Cys",
"transcript": "NM_001395891.1",
"protein_id": "NP_001382820.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3712,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696935.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395891.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3712C>T",
"hgvs_p": "p.Arg1238Cys",
"transcript": "ENST00000696935.1",
"protein_id": "ENSP00000512981.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3712,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395891.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696935.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3649C>T",
"hgvs_p": "p.Arg1217Cys",
"transcript": "NM_015282.3",
"protein_id": "NP_056097.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1538,
"cds_start": 3649,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015282.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3649C>T",
"hgvs_p": "p.Arg1217Cys",
"transcript": "ENST00000263710.8",
"protein_id": "ENSP00000263710.4",
"transcript_support_level": 5,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1538,
"cds_start": 3649,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263710.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3592C>T",
"hgvs_p": "p.Arg1198Cys",
"transcript": "ENST00000961911.1",
"protein_id": "ENSP00000631970.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961911.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3568C>T",
"hgvs_p": "p.Arg1190Cys",
"transcript": "ENST00000961907.1",
"protein_id": "ENSP00000631966.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961907.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3568C>T",
"hgvs_p": "p.Arg1190Cys",
"transcript": "ENST00000961936.1",
"protein_id": "ENSP00000631995.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3568,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961936.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3553C>T",
"hgvs_p": "p.Arg1185Cys",
"transcript": "NM_001378003.1",
"protein_id": "NP_001364932.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378003.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3547C>T",
"hgvs_p": "p.Arg1183Cys",
"transcript": "ENST00000961923.1",
"protein_id": "ENSP00000631982.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3547,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961923.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3544C>T",
"hgvs_p": "p.Arg1182Cys",
"transcript": "ENST00000961917.1",
"protein_id": "ENSP00000631976.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961917.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3544C>T",
"hgvs_p": "p.Arg1182Cys",
"transcript": "ENST00000961925.1",
"protein_id": "ENSP00000631984.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961925.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3544C>T",
"hgvs_p": "p.Arg1182Cys",
"transcript": "ENST00000961930.1",
"protein_id": "ENSP00000631989.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961930.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3520C>T",
"hgvs_p": "p.Arg1174Cys",
"transcript": "ENST00000877408.1",
"protein_id": "ENSP00000547467.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1495,
"cds_start": 3520,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877408.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3517C>T",
"hgvs_p": "p.Arg1173Cys",
"transcript": "ENST00000961920.1",
"protein_id": "ENSP00000631979.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3517,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961920.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3517C>T",
"hgvs_p": "p.Arg1173Cys",
"transcript": "ENST00000961932.1",
"protein_id": "ENSP00000631991.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3517,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961932.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3496C>T",
"hgvs_p": "p.Arg1166Cys",
"transcript": "ENST00000961928.1",
"protein_id": "ENSP00000631987.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3496,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961928.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3493C>T",
"hgvs_p": "p.Arg1165Cys",
"transcript": "ENST00000961919.1",
"protein_id": "ENSP00000631978.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3493,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961919.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Cys",
"transcript": "ENST00000961910.1",
"protein_id": "ENSP00000631969.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3490,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961910.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Cys",
"transcript": "ENST00000961926.1",
"protein_id": "ENSP00000631985.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3490,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961926.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3487C>T",
"hgvs_p": "p.Arg1163Cys",
"transcript": "ENST00000961915.1",
"protein_id": "ENSP00000631974.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3487,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961915.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3481C>T",
"hgvs_p": "p.Arg1161Cys",
"transcript": "ENST00000961927.1",
"protein_id": "ENSP00000631986.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1482,
"cds_start": 3481,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961927.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3472C>T",
"hgvs_p": "p.Arg1158Cys",
"transcript": "NM_001142273.2",
"protein_id": "NP_001135745.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
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{
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{
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],
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],
"gene_symbol": "CLASP1",
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"dbsnp": "rs770007213",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21065166592597961,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.2396,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.595,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
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"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001395891.1",
"gene_symbol": "CLASP1",
"hgnc_id": 17088,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.3712C>T",
"hgvs_p": "p.Arg1238Cys"
}
],
"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
}