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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: 2-143703479-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=143703479&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGAP15",
"hgnc_id": 21030,
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018460.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARHGAP15-AS1",
"hgnc_id": 40949,
"hgvs_c": "n.192+37611G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000548051.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 86,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0633,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13549765944480896,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_018460.4",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295095.11",
"protein_coding": true,
"protein_id": "NP_060930.3",
"strand": true,
"transcript": "NM_018460.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000295095.11",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018460.4",
"protein_coding": true,
"protein_id": "ENSP00000295095.6",
"strand": true,
"transcript": "ENST00000295095.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000906468.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1280C>T",
"hgvs_p": "p.Pro427Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576527.1",
"strand": true,
"transcript": "ENST00000906468.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906471.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576530.1",
"strand": true,
"transcript": "ENST00000906471.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000944446.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614505.1",
"strand": true,
"transcript": "ENST00000944446.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906469.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576528.1",
"strand": true,
"transcript": "ENST00000906469.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 442,
"aa_ref": "P",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000906470.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1100C>T",
"hgvs_p": "p.Pro367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576529.1",
"strand": true,
"transcript": "ENST00000906470.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047445109.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301065.1",
"strand": true,
"transcript": "XM_047445109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 432,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017004500.3",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859989.1",
"strand": true,
"transcript": "XM_017004500.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011511482.3",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Pro400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509784.1",
"strand": true,
"transcript": "XM_011511482.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 397,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1194,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011511483.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509785.1",
"strand": true,
"transcript": "XM_011511483.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1062,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047445110.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Pro278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301066.1",
"strand": true,
"transcript": "XM_047445110.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7184,
"cdna_start": 6775,
"cds_end": null,
"cds_length": 1047,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047445111.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Pro273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301067.1",
"strand": true,
"transcript": "XM_047445111.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 241,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 819,
"cds_end": null,
"cds_length": 726,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024453000.2",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308768.1",
"strand": true,
"transcript": "XM_024453000.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000549436.5",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "n.361C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000549436.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_007078554.1",
"gene_hgnc_id": 21030,
"gene_symbol": "ARHGAP15",
"hgvs_c": "n.1212C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007078554.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000548051.2",
"gene_hgnc_id": 40949,
"gene_symbol": "ARHGAP15-AS1",
"hgvs_c": "n.192+37611G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000548051.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552220.1",
"gene_hgnc_id": 40949,
"gene_symbol": "ARHGAP15-AS1",
"hgvs_c": "n.206-26898G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000552220.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000819656.1",
"gene_hgnc_id": 40949,
"gene_symbol": "ARHGAP15-AS1",
"hgvs_c": "n.302-42711G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000819656.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 370,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000819854.1",
"gene_hgnc_id": 40949,
"gene_symbol": "ARHGAP15-AS1",
"hgvs_c": "n.131-26898G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000819854.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
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