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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: 7-150958405-GGCGCCCGCGCCGCCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150958405&ref=GGCGCCCGCGCCGCCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150958405,
"ref": "GGCGCCCGCGCCGCCC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_000238.4",
"consequences": [
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.555_569delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly186_Ala190del",
"transcript": "NM_000238.4",
"protein_id": "NP_000229.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1159,
"cds_start": 555,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": "ENST00000262186.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000238.4"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.555_569delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly186_Ala190del",
"transcript": "ENST00000262186.10",
"protein_id": "ENSP00000262186.5",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 1159,
"cds_start": 555,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": "NM_000238.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262186.10"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.555_569delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly186_Ala190del",
"transcript": "ENST00000713710.1",
"protein_id": "ENSP00000519013.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1137,
"cds_start": 555,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713710.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.267_281delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly90_Ala94del",
"transcript": "NM_001406753.1",
"protein_id": "NP_001393682.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 1063,
"cds_start": 267,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406753.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.255_269delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly86_Ala90del",
"transcript": "ENST00000713701.1",
"protein_id": "ENSP00000519004.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1059,
"cds_start": 255,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713701.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.555_569delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly186_Ala190del",
"transcript": "ENST00000945646.1",
"protein_id": "ENSP00000615705.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1008,
"cds_start": 555,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945646.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.555_569delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly186_Ala190del",
"transcript": "NM_172056.3",
"protein_id": "NP_742053.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 888,
"cds_start": 555,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172056.3"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.378_392delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly127_Ala131del",
"transcript": "NM_001406755.1",
"protein_id": "NP_001393684.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 829,
"cds_start": 378,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406755.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.267_281delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly90_Ala94del",
"transcript": "NM_001406756.1",
"protein_id": "NP_001393685.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 792,
"cds_start": 267,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406756.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.255_269delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly86_Ala90del",
"transcript": "NM_001406757.1",
"protein_id": "NP_001393686.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 788,
"cds_start": 255,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406757.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.633_647delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly212_Ala216del",
"transcript": "XM_047420348.1",
"protein_id": "XP_047276304.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1185,
"cds_start": 633,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420348.1"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.405_419delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly136_Ala140del",
"transcript": "XM_017012195.2",
"protein_id": "XP_016867684.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1109,
"cds_start": 405,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012195.2"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.378_392delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly127_Ala131del",
"transcript": "XM_017012196.2",
"protein_id": "XP_016867685.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1100,
"cds_start": 378,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012196.2"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.255_269delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly86_Ala90del",
"transcript": "XM_011516185.3",
"protein_id": "XP_011514487.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1059,
"cds_start": 255,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516185.3"
},
{
"aa_ref": "AGGAGA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.633_647delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly212_Ala216del",
"transcript": "XM_047420349.1",
"protein_id": "XP_047276305.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 936,
"cds_start": 633,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420349.1"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.473-918_473-904delGGGCGGCGCGGGCGC",
"hgvs_p": null,
"transcript": "ENST00000945647.1",
"protein_id": "ENSP00000615706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": null,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.778_792delGGGCGGCGCGGGCGC",
"hgvs_p": null,
"transcript": "ENST00000532957.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532957.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.1388_1402delGGGCGGCGCGGGCGC",
"hgvs_p": null,
"transcript": "ENST00000684241.1",
"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": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.513_527delGGGCGGCGCGGGCGC",
"hgvs_p": null,
"transcript": "ENST00000713700.1",
"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": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000713700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.963_977delGGGCGGCGCGGGCGC",
"hgvs_p": null,
"transcript": "NR_176254.1",
"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": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_176254.1"
}
],
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"dbsnp": "rs1554427907",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.769,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000238.4",
"gene_symbol": "KCNH2",
"hgnc_id": 6251,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.555_569delGGGCGGCGCGGGCGC",
"hgvs_p": "p.Gly186_Ala190del"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}