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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: 2-121363243-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=121363243&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 121363243,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001395891.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Ala1400Thr",
"transcript": "NM_001395891.1",
"protein_id": "NP_001382820.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1559,
"cds_start": 4198,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Ala1400Thr",
"transcript": "ENST00000696935.1",
"protein_id": "ENSP00000512981.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1559,
"cds_start": 4198,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4135G>A",
"hgvs_p": "p.Ala1379Thr",
"transcript": "NM_015282.3",
"protein_id": "NP_056097.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4135,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4135G>A",
"hgvs_p": "p.Ala1379Thr",
"transcript": "ENST00000263710.8",
"protein_id": "ENSP00000263710.4",
"transcript_support_level": 5,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4135,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4078G>A",
"hgvs_p": "p.Ala1360Thr",
"transcript": "ENST00000961911.1",
"protein_id": "ENSP00000631970.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1519,
"cds_start": 4078,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4054G>A",
"hgvs_p": "p.Ala1352Thr",
"transcript": "ENST00000961907.1",
"protein_id": "ENSP00000631966.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4054,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4054G>A",
"hgvs_p": "p.Ala1352Thr",
"transcript": "ENST00000961936.1",
"protein_id": "ENSP00000631995.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4054,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4039G>A",
"hgvs_p": "p.Ala1347Thr",
"transcript": "NM_001378003.1",
"protein_id": "NP_001364932.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4039,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4033G>A",
"hgvs_p": "p.Ala1345Thr",
"transcript": "ENST00000961923.1",
"protein_id": "ENSP00000631982.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1504,
"cds_start": 4033,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4030G>A",
"hgvs_p": "p.Ala1344Thr",
"transcript": "ENST00000961917.1",
"protein_id": "ENSP00000631976.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4030,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4030G>A",
"hgvs_p": "p.Ala1344Thr",
"transcript": "ENST00000961925.1",
"protein_id": "ENSP00000631984.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4030,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4030G>A",
"hgvs_p": "p.Ala1344Thr",
"transcript": "ENST00000961930.1",
"protein_id": "ENSP00000631989.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4030,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Ala1336Thr",
"transcript": "ENST00000877408.1",
"protein_id": "ENSP00000547467.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4006,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4003G>A",
"hgvs_p": "p.Ala1335Thr",
"transcript": "ENST00000961920.1",
"protein_id": "ENSP00000631979.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1494,
"cds_start": 4003,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.4003G>A",
"hgvs_p": "p.Ala1335Thr",
"transcript": "ENST00000961932.1",
"protein_id": "ENSP00000631991.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1494,
"cds_start": 4003,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3982G>A",
"hgvs_p": "p.Ala1328Thr",
"transcript": "ENST00000961928.1",
"protein_id": "ENSP00000631987.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3982,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3979G>A",
"hgvs_p": "p.Ala1327Thr",
"transcript": "ENST00000961919.1",
"protein_id": "ENSP00000631978.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3979,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3976G>A",
"hgvs_p": "p.Ala1326Thr",
"transcript": "ENST00000961910.1",
"protein_id": "ENSP00000631969.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3976,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3976G>A",
"hgvs_p": "p.Ala1326Thr",
"transcript": "ENST00000961926.1",
"protein_id": "ENSP00000631985.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3976,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3973G>A",
"hgvs_p": "p.Ala1325Thr",
"transcript": "ENST00000961915.1",
"protein_id": "ENSP00000631974.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3973,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3967G>A",
"hgvs_p": "p.Ala1323Thr",
"transcript": "ENST00000961927.1",
"protein_id": "ENSP00000631986.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1482,
"cds_start": 3967,
"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": "A",
"aa_alt": "T",
"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": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.3958G>A",
"hgvs_p": "p.Ala1320Thr",
"transcript": "NM_001142273.2",
"protein_id": "NP_001135745.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1479,
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.4125136733055115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.658,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001395891.1",
"gene_symbol": "CLASP1",
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"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "CLASP1-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CLASP1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}