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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: 8-1869795-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1869795&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1869795,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001438091.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "NM_014629.4",
"protein_id": "NP_055444.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": null,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349830.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014629.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "ENST00000349830.8",
"protein_id": "ENSP00000340297.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": null,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014629.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349830.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.754+545C>G",
"hgvs_p": null,
"transcript": "ENST00000518288.5",
"protein_id": "ENSP00000431012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": null,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518288.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "ENST00000520359.5",
"protein_id": "ENSP00000427909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520359.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.64+545C>G",
"hgvs_p": null,
"transcript": "ENST00000398560.2",
"protein_id": "ENSP00000381568.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398560.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "n.1013C>G",
"hgvs_p": null,
"transcript": "ENST00000522969.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000522969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.*633+545C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.754+545C>G",
"hgvs_p": null,
"transcript": "ENST00000398564.5",
"protein_id": "ENSP00000381571.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1369,
"cds_start": null,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398564.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "NM_001438091.1",
"protein_id": "NP_001425020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1345,
"cds_start": null,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "ENST00000862863.1",
"protein_id": "ENSP00000532922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1345,
"cds_start": null,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "ENST00000926730.1",
"protein_id": "ENSP00000596789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1345,
"cds_start": null,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "NM_001308153.3",
"protein_id": "NP_001295082.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": null,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308153.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "ENST00000862865.1",
"protein_id": "ENSP00000532924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": null,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.781+446C>G",
"hgvs_p": null,
"transcript": "ENST00000926735.1",
"protein_id": "ENSP00000596794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": null,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "ENST00000926733.1",
"protein_id": "ENSP00000596792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1318,
"cds_start": null,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "NM_001308152.2",
"protein_id": "NP_001295081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308152.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "ENST00000926736.1",
"protein_id": "ENSP00000596795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "NM_001438092.1",
"protein_id": "NP_001425021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1305,
"cds_start": null,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "NM_001438093.1",
"protein_id": "NP_001425022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1305,
"cds_start": null,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438093.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "ENST00000862866.1",
"protein_id": "ENSP00000532925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1305,
"cds_start": null,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862866.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.679+545C>G",
"hgvs_p": null,
"transcript": "ENST00000926731.1",
"protein_id": "ENSP00000596790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1305,
"cds_start": null,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.682+545C>G",
"hgvs_p": null,
"transcript": "ENST00000862864.1",
"protein_id": "ENSP00000532923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": null,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001438091.1",
"gene_symbol": "ARHGEF10",
"hgnc_id": 14103,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.682+545C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000635855.1",
"gene_symbol": "KBTBD11-OT1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*633+545C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000797497.1",
"gene_symbol": "ENSG00000303852",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.19G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}