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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: 19-617472-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=617472&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 617472,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000588649.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3590A>C",
"hgvs_p": "p.Lys1197Thr",
"transcript": "NM_005035.4",
"protein_id": "NP_005026.3",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": "ENST00000588649.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3590A>C",
"hgvs_p": "p.Lys1197Thr",
"transcript": "ENST00000588649.7",
"protein_id": "ENSP00000465759.2",
"transcript_support_level": 1,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": "NM_005035.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3611A>C",
"hgvs_p": "p.Lys1204Thr",
"transcript": "NM_001407805.1",
"protein_id": "NP_001394734.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3602A>C",
"hgvs_p": "p.Lys1201Thr",
"transcript": "NM_001407806.1",
"protein_id": "NP_001394735.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3602,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3599A>C",
"hgvs_p": "p.Lys1200Thr",
"transcript": "NM_001407807.1",
"protein_id": "NP_001394736.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3599A>C",
"hgvs_p": "p.Lys1200Thr",
"transcript": "NM_001407808.1",
"protein_id": "NP_001394737.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3581A>C",
"hgvs_p": "p.Lys1194Thr",
"transcript": "NM_001407809.1",
"protein_id": "NP_001394738.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3581,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3578A>C",
"hgvs_p": "p.Lys1193Thr",
"transcript": "NM_001407810.1",
"protein_id": "NP_001394739.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3578,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3569A>C",
"hgvs_p": "p.Lys1190Thr",
"transcript": "NM_001407811.1",
"protein_id": "NP_001394740.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3569,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3551A>C",
"hgvs_p": "p.Lys1184Thr",
"transcript": "NM_001407812.1",
"protein_id": "NP_001394741.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3548A>C",
"hgvs_p": "p.Lys1183Thr",
"transcript": "NM_001407813.1",
"protein_id": "NP_001394742.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3573,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3533A>C",
"hgvs_p": "p.Lys1178Thr",
"transcript": "NM_001407814.1",
"protein_id": "NP_001394743.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3512A>C",
"hgvs_p": "p.Lys1171Thr",
"transcript": "NM_001407815.1",
"protein_id": "NP_001394744.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1204,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3491A>C",
"hgvs_p": "p.Lys1164Thr",
"transcript": "NM_001407816.1",
"protein_id": "NP_001394745.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3488A>C",
"hgvs_p": "p.Lys1163Thr",
"transcript": "NM_001407829.1",
"protein_id": "NP_001394758.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3365A>C",
"hgvs_p": "p.Lys1122Thr",
"transcript": "NM_001407830.1",
"protein_id": "NP_001394759.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3390,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3287A>C",
"hgvs_p": "p.Lys1096Thr",
"transcript": "NM_001407831.1",
"protein_id": "NP_001394760.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3287,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3266A>C",
"hgvs_p": "p.Lys1089Thr",
"transcript": "NM_001407832.1",
"protein_id": "NP_001394761.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3266,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3266A>C",
"hgvs_p": "p.Lys1089Thr",
"transcript": "NM_001407833.1",
"protein_id": "NP_001394762.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3266,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3840,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3257A>C",
"hgvs_p": "p.Lys1086Thr",
"transcript": "NM_001407834.1",
"protein_id": "NP_001394763.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3831,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3227A>C",
"hgvs_p": "p.Lys1076Thr",
"transcript": "NM_001407835.1",
"protein_id": "NP_001394764.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.3188A>C",
"hgvs_p": "p.Lys1063Thr",
"transcript": "NM_001407836.1",
"protein_id": "NP_001394765.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1096,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "POLRMT",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}