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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: 1-17697186-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=17697186&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 17697186,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018125.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3646G>T",
"hgvs_p": "p.Asp1216Tyr",
"transcript": "NM_018125.4",
"protein_id": "NP_060595.3",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3646,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361221.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018125.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3646G>T",
"hgvs_p": "p.Asp1216Tyr",
"transcript": "ENST00000361221.8",
"protein_id": "ENSP00000355060.3",
"transcript_support_level": 1,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3646,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018125.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361221.8"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3529G>T",
"hgvs_p": "p.Asp1177Tyr",
"transcript": "ENST00000375415.5",
"protein_id": "ENSP00000364564.1",
"transcript_support_level": 1,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375415.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3649G>T",
"hgvs_p": "p.Asp1217Tyr",
"transcript": "ENST00000970707.1",
"protein_id": "ENSP00000640766.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3649,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970707.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3634G>T",
"hgvs_p": "p.Asp1212Tyr",
"transcript": "ENST00000933933.1",
"protein_id": "ENSP00000603992.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3634,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933933.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3631G>T",
"hgvs_p": "p.Asp1211Tyr",
"transcript": "ENST00000933927.1",
"protein_id": "ENSP00000603986.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3631,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933927.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3577G>T",
"hgvs_p": "p.Asp1193Tyr",
"transcript": "ENST00000970702.1",
"protein_id": "ENSP00000640761.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3577,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970702.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3574G>T",
"hgvs_p": "p.Asp1192Tyr",
"transcript": "ENST00000970706.1",
"protein_id": "ENSP00000640765.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3574,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970706.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3532G>T",
"hgvs_p": "p.Asp1178Tyr",
"transcript": "ENST00000970701.1",
"protein_id": "ENSP00000640760.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970701.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3532G>T",
"hgvs_p": "p.Asp1178Tyr",
"transcript": "ENST00000970711.1",
"protein_id": "ENSP00000640770.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970711.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3529G>T",
"hgvs_p": "p.Asp1177Tyr",
"transcript": "NM_001011722.2",
"protein_id": "NP_001011722.2",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011722.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "NM_001438939.1",
"protein_id": "NP_001425868.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438939.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "NM_001438940.1",
"protein_id": "NP_001425869.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438940.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "NM_001438941.1",
"protein_id": "NP_001425870.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438941.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "NM_001438942.1",
"protein_id": "NP_001425871.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438942.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "ENST00000875005.1",
"protein_id": "ENSP00000545064.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875005.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "ENST00000933932.1",
"protein_id": "ENSP00000603991.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933932.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "ENST00000970699.1",
"protein_id": "ENSP00000640758.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970699.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Asp1173Tyr",
"transcript": "ENST00000970710.1",
"protein_id": "ENSP00000640769.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3517,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970710.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Asp1172Tyr",
"transcript": "NM_001319837.2",
"protein_id": "NP_001306766.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3514,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319837.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Asp1172Tyr",
"transcript": "NM_001438943.1",
"protein_id": "NP_001425872.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3514,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438943.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Asp1172Tyr",
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"verdict": "Uncertain_significance",
"transcript": "NM_018125.4",
"gene_symbol": "ARHGEF10L",
"hgnc_id": 25540,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3646G>T",
"hgvs_p": "p.Asp1216Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}