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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: 8-1885635-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1885635&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1885635,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000349830.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1110G>C",
"hgvs_p": "p.Leu370Phe",
"transcript": "NM_014629.4",
"protein_id": "NP_055444.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1110,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": "ENST00000349830.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1110G>C",
"hgvs_p": "p.Leu370Phe",
"transcript": "ENST00000349830.8",
"protein_id": "ENSP00000340297.3",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1110,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": "NM_014629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1185G>C",
"hgvs_p": "p.Leu395Phe",
"transcript": "ENST00000518288.5",
"protein_id": "ENSP00000431012.1",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 1368,
"cds_start": 1185,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Phe",
"transcript": "ENST00000520359.5",
"protein_id": "ENSP00000427909.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 1306,
"cds_start": 996,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.129G>C",
"hgvs_p": "p.Leu43Phe",
"transcript": "ENST00000522435.5",
"protein_id": "ENSP00000427768.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 988,
"cds_start": 129,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.378G>C",
"hgvs_p": "p.Leu126Phe",
"transcript": "ENST00000398560.2",
"protein_id": "ENSP00000381568.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 380,
"cds_start": 378,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 865,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "n.834G>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": 12,
"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.*1064G>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": 12,
"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.*1064G>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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1185G>C",
"hgvs_p": "p.Leu395Phe",
"transcript": "ENST00000398564.5",
"protein_id": "ENSP00000381571.1",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 1369,
"cds_start": 1185,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Phe",
"transcript": "NM_001438091.1",
"protein_id": "NP_001425020.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1345,
"cds_start": 1113,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Phe",
"transcript": "NM_001308153.3",
"protein_id": "NP_001295082.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1113,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Phe",
"transcript": "NM_001308152.2",
"protein_id": "NP_001295081.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1306,
"cds_start": 996,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Phe",
"transcript": "NM_001438092.1",
"protein_id": "NP_001425021.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1305,
"cds_start": 996,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 5486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.993G>C",
"hgvs_p": "p.Leu331Phe",
"transcript": "NM_001438093.1",
"protein_id": "NP_001425022.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1305,
"cds_start": 993,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 5531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Phe",
"transcript": "NM_001438094.1",
"protein_id": "NP_001425023.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1265,
"cds_start": 996,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Leu399Phe",
"transcript": "XM_024447335.2",
"protein_id": "XP_024303103.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1373,
"cds_start": 1197,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1185G>C",
"hgvs_p": "p.Leu395Phe",
"transcript": "XM_017014003.2",
"protein_id": "XP_016869492.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1369,
"cds_start": 1185,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Leu371Phe",
"transcript": "XM_047422450.1",
"protein_id": "XP_047278406.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1345,
"cds_start": 1113,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.1110G>C",
"hgvs_p": "p.Leu370Phe",
"transcript": "XM_047422452.1",
"protein_id": "XP_047278408.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1110,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Phe",
"transcript": "XM_047422449.1",
"protein_id": "XP_047278405.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1306,
"cds_start": 996,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Phe",
"transcript": "XM_047422454.1",
"protein_id": "XP_047278410.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1306,
"cds_start": 996,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"splice_prediction_selected": "Benign",
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{
"score": -20,
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"pathogenic_score": 0,
"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000349830.8",
"gene_symbol": "ARHGEF10",
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"effects": [
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{
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],
"verdict": "Benign",
"transcript": "ENST00000635855.1",
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}
],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Autosomal dominant slowed nerve conduction velocity|Charcot-Marie-Tooth disease|not provided|ARHGEF10-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}