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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: 8-1882687-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1882687&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1882687,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000349830.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Thr",
"transcript": "NM_014629.4",
"protein_id": "NP_055444.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1013,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": "ENST00000349830.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Thr",
"transcript": "ENST00000349830.8",
"protein_id": "ENSP00000340297.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1013,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": "NM_014629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1088G>C",
"hgvs_p": "p.Arg363Thr",
"transcript": "ENST00000518288.5",
"protein_id": "ENSP00000431012.1",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 1368,
"cds_start": 1088,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Thr",
"transcript": "ENST00000520359.5",
"protein_id": "ENSP00000427909.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 1306,
"cds_start": 899,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.32G>C",
"hgvs_p": "p.Arg11Thr",
"transcript": "ENST00000522435.5",
"protein_id": "ENSP00000427768.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 988,
"cds_start": 32,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 32,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Arg94Thr",
"transcript": "ENST00000398560.2",
"protein_id": "ENSP00000381568.2",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 281,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "n.737G>C",
"hgvs_p": null,
"transcript": "ENST00000523711.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.*967G>C",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.*967G>C",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1088G>C",
"hgvs_p": "p.Arg363Thr",
"transcript": "ENST00000398564.5",
"protein_id": "ENSP00000381571.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 1369,
"cds_start": 1088,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1016G>C",
"hgvs_p": "p.Arg339Thr",
"transcript": "NM_001438091.1",
"protein_id": "NP_001425020.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 1345,
"cds_start": 1016,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1016G>C",
"hgvs_p": "p.Arg339Thr",
"transcript": "NM_001308153.3",
"protein_id": "NP_001295082.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1016,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Thr",
"transcript": "NM_001308152.2",
"protein_id": "NP_001295081.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1306,
"cds_start": 899,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Thr",
"transcript": "NM_001438092.1",
"protein_id": "NP_001425021.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1305,
"cds_start": 899,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 5486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.896G>C",
"hgvs_p": "p.Arg299Thr",
"transcript": "NM_001438093.1",
"protein_id": "NP_001425022.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1305,
"cds_start": 896,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 5531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Thr",
"transcript": "NM_001438094.1",
"protein_id": "NP_001425023.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1265,
"cds_start": 899,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1100G>C",
"hgvs_p": "p.Arg367Thr",
"transcript": "XM_024447335.2",
"protein_id": "XP_024303103.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 1373,
"cds_start": 1100,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1088G>C",
"hgvs_p": "p.Arg363Thr",
"transcript": "XM_017014003.2",
"protein_id": "XP_016869492.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 1369,
"cds_start": 1088,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1016G>C",
"hgvs_p": "p.Arg339Thr",
"transcript": "XM_047422450.1",
"protein_id": "XP_047278406.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 1345,
"cds_start": 1016,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Thr",
"transcript": "XM_047422452.1",
"protein_id": "XP_047278408.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1013,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Thr",
"transcript": "XM_047422449.1",
"protein_id": "XP_047278405.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1306,
"cds_start": 899,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Thr",
"transcript": "XM_047422454.1",
"protein_id": "XP_047278410.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1306,
"cds_start": 899,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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{
"score": -7,
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"criteria": [
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"BP6",
"BS2"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "Unknown,AD",
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{
"score": -1,
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"BP6"
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}
],
"clinvar_disease": "Autosomal dominant slowed nerve conduction velocity,Charcot-Marie-Tooth disease,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Charcot-Marie-Tooth disease|Autosomal dominant slowed nerve conduction velocity",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}