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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: 2-143768039-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=143768039&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 143768039,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018460.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "NM_018460.4",
"protein_id": "NP_060930.3",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 475,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": "ENST00000295095.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018460.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "ENST00000295095.11",
"protein_id": "ENSP00000295095.6",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 475,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": "NM_018460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295095.11"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1376T>C",
"hgvs_p": "p.Ile459Thr",
"transcript": "ENST00000906468.1",
"protein_id": "ENSP00000576527.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 502,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906468.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "ENST00000906471.1",
"protein_id": "ENSP00000576530.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 475,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906471.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "ENST00000944446.1",
"protein_id": "ENSP00000614505.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 475,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944446.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1292T>C",
"hgvs_p": "p.Ile431Thr",
"transcript": "ENST00000906469.1",
"protein_id": "ENSP00000576528.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 474,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906469.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Ile399Thr",
"transcript": "ENST00000906470.1",
"protein_id": "ENSP00000576529.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 442,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906470.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Ile389Thr",
"transcript": "XM_017004500.3",
"protein_id": "XP_016859989.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 432,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004500.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.1061T>C",
"hgvs_p": "p.Ile354Thr",
"transcript": "XM_011511483.1",
"protein_id": "XP_011509785.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 397,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511483.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "XM_047445110.1",
"protein_id": "XP_047301066.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 353,
"cds_start": 929,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445110.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Ile305Thr",
"transcript": "XM_047445111.1",
"protein_id": "XP_047301067.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 348,
"cds_start": 914,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 6871,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445111.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.593T>C",
"hgvs_p": "p.Ile198Thr",
"transcript": "XM_024453000.2",
"protein_id": "XP_024308768.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 241,
"cds_start": 593,
"cds_end": null,
"cds_length": 726,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453000.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "n.228T>C",
"hgvs_p": null,
"transcript": "ENST00000549060.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "n.1432T>C",
"hgvs_p": null,
"transcript": "XR_007078554.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007078554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.294-1152A>G",
"hgvs_p": null,
"transcript": "ENST00000548756.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000548756.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.101-18700A>G",
"hgvs_p": null,
"transcript": "ENST00000819656.1",
"protein_id": null,
"transcript_support_level": null,
"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": 387,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000819656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.130+7964A>G",
"hgvs_p": null,
"transcript": "ENST00000819854.1",
"protein_id": null,
"transcript_support_level": null,
"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": 370,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000819854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.288+7144A>G",
"hgvs_p": null,
"transcript": "ENST00000819855.1",
"protein_id": null,
"transcript_support_level": null,
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000819855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.297+7144A>G",
"hgvs_p": null,
"transcript": "ENST00000819856.1",
"protein_id": null,
"transcript_support_level": null,
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000819856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.305+7144A>G",
"hgvs_p": null,
"transcript": "ENST00000819857.1",
"protein_id": null,
"transcript_support_level": null,
"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": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000819857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.298+7144A>G",
"hgvs_p": null,
"transcript": "ENST00000819858.1",
"protein_id": null,
"transcript_support_level": null,
"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": 368,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000819858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15-AS1",
"gene_hgnc_id": 40949,
"hgvs_c": "n.272+7144A>G",
"hgvs_p": null,
"transcript": "XR_007087251.1",
"protein_id": null,
"transcript_support_level": null,
"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": 9417,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007087251.1"
}
],
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"dbsnp": "rs753972109",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9615538120269775,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9949,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_018460.4",
"gene_symbol": "ARHGAP15",
"hgnc_id": 21030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000548756.2",
"gene_symbol": "ARHGAP15-AS1",
"hgnc_id": 40949,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.294-1152A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}