← Back to variant description
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: 2-201208181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201208181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201208181,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000286186.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "NM_032977.4",
"protein_id": "NP_116759.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 522,
"cds_start": 920,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "ENST00000286186.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "ENST00000286186.11",
"protein_id": "ENSP00000286186.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 522,
"cds_start": 920,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "NM_032977.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "ENST00000448480.1",
"protein_id": "ENSP00000396835.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 478,
"cds_start": 791,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.722-889C>T",
"hgvs_p": null,
"transcript": "ENST00000313728.12",
"protein_id": "ENSP00000314599.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "NM_032974.5",
"protein_id": "NP_116756.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 521,
"cds_start": 920,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "ENST00000272879.9",
"protein_id": "ENSP00000272879.5",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 521,
"cds_start": 920,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "NM_001230.5",
"protein_id": "NP_001221.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 479,
"cds_start": 791,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "ENST00000346817.10",
"protein_id": "ENSP00000237865.7",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 479,
"cds_start": 791,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "NM_001206542.2",
"protein_id": "NP_001193471.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 478,
"cds_start": 791,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.*6C>T",
"hgvs_p": null,
"transcript": "NM_032976.4",
"protein_id": "NP_116758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "XM_005246907.3",
"protein_id": "XP_005246964.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 521,
"cds_start": 917,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "XM_047446016.1",
"protein_id": "XP_047301972.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 272,
"cds_start": 170,
"cds_end": null,
"cds_length": 819,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.*377C>T",
"hgvs_p": null,
"transcript": "ENST00000438843.6",
"protein_id": "ENSP00000401914.1",
"transcript_support_level": 2,
"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": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000492363.6",
"protein_id": "ENSP00000512459.1",
"transcript_support_level": 2,
"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": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.1000C>T",
"hgvs_p": null,
"transcript": "XR_007082551.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.1095C>T",
"hgvs_p": null,
"transcript": "XR_923043.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.1003C>T",
"hgvs_p": null,
"transcript": "XR_923044.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.*6C>T",
"hgvs_p": null,
"transcript": "NM_032976.4",
"protein_id": "NP_116758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.*377C>T",
"hgvs_p": null,
"transcript": "ENST00000438843.6",
"protein_id": "ENSP00000401914.1",
"transcript_support_level": 2,
"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": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000492363.6",
"protein_id": "ENSP00000512459.1",
"transcript_support_level": 2,
"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": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.722-889C>T",
"hgvs_p": null,
"transcript": "NM_001206524.2",
"protein_id": "NP_001193453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.721+4415C>T",
"hgvs_p": null,
"transcript": "ENST00000696199.1",
"protein_id": "ENSP00000512481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"dbsnp": "rs1291372845",
"frequency_reference_population": 0.0000013704863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137049,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2596551477909088,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.35199999809265137,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.3744,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.031,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.297739224556565,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000286186.11",
"gene_symbol": "CASP10",
"hgnc_id": 1500,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}