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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: 1-110603663-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=110603663&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 110603663,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000316361.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "NM_004974.4",
"protein_id": "NP_004965.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 11829,
"mane_select": "ENST00000316361.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000316361.10",
"protein_id": "ENSP00000314520.4",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 11829,
"mane_select": "NM_004974.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.894+226A>G",
"hgvs_p": null,
"transcript": "ENST00000369770.7",
"protein_id": "ENSP00000358785.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000485317.6",
"protein_id": "ENSP00000433109.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000633222.1",
"protein_id": "ENSP00000487785.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 11877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000638532.1",
"protein_id": "ENSP00000491613.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000638616.2",
"protein_id": "ENSP00000491977.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 11995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000675391.1",
"protein_id": "ENSP00000502642.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 12025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Thr252Ala",
"transcript": "ENST00000640956.1",
"protein_id": "ENSP00000491647.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 377,
"cds_start": 754,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Thr180Ala",
"transcript": "ENST00000639233.2",
"protein_id": "ENSP00000492716.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 305,
"cds_start": 538,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 11117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Thr120Ala",
"transcript": "ENST00000639048.2",
"protein_id": "ENSP00000491627.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 245,
"cds_start": 358,
"cds_end": null,
"cds_length": 738,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "XM_011541396.3",
"protein_id": "XP_011539698.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 11831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "XM_011541398.3",
"protein_id": "XP_011539700.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 11770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "XM_011541400.3",
"protein_id": "XP_011539702.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 11765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "XM_017001213.2",
"protein_id": "XP_016856702.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 499,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 11776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.894+226A>G",
"hgvs_p": null,
"transcript": "NM_001204269.2",
"protein_id": "NP_001191198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1925,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.132+226A>G",
"hgvs_p": null,
"transcript": "ENST00000640774.2",
"protein_id": "ENSP00000492008.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
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"cdna_length": 9428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "c.128+230A>G",
"hgvs_p": null,
"transcript": "ENST00000638477.2",
"protein_id": "ENSP00000491354.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "n.361+1728A>G",
"hgvs_p": null,
"transcript": "ENST00000525120.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "n.658+230A>G",
"hgvs_p": null,
"transcript": "ENST00000639227.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1189,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "n.998+230A>G",
"hgvs_p": null,
"transcript": "ENST00000640450.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"hgvs_c": "n.459+1728A>G",
"hgvs_p": null,
"transcript": "ENST00000640680.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNA2",
"gene_hgnc_id": 6220,
"dbsnp": "rs1553181280",
"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": 0.9774077534675598,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.974,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000316361.10",
"gene_symbol": "KCNA2",
"hgnc_id": 6220,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala"
}
],
"clinvar_disease": " 32,Developmental and epileptic encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Developmental and epileptic encephalopathy, 32",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}