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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: 1-210804143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210804143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 210804143,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_172362.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Gly496Arg",
"transcript": "NM_172362.3",
"protein_id": "NP_758872.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 989,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271751.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172362.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Gly496Arg",
"transcript": "ENST00000271751.10",
"protein_id": "ENSP00000271751.4",
"transcript_support_level": 2,
"aa_start": 496,
"aa_end": null,
"aa_length": 989,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172362.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271751.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "ENST00000639952.1",
"protein_id": "ENSP00000492697.1",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 962,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639952.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Arg",
"transcript": "ENST00000640044.1",
"protein_id": "ENSP00000491434.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 605,
"cds_start": 334,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640044.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.311-28599G>A",
"hgvs_p": null,
"transcript": "ENST00000640566.1",
"protein_id": "ENSP00000491302.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640566.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "NM_002238.4",
"protein_id": "NP_002229.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 962,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002238.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Gly496Arg",
"transcript": "ENST00000638498.1",
"protein_id": "ENSP00000490983.1",
"transcript_support_level": 5,
"aa_start": 496,
"aa_end": null,
"aa_length": 940,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638498.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "ENST00000367007.5",
"protein_id": "ENSP00000355974.5",
"transcript_support_level": 5,
"aa_start": 469,
"aa_end": null,
"aa_length": 913,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367007.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Gly338Arg",
"transcript": "ENST00000865058.1",
"protein_id": "ENSP00000535117.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 831,
"cds_start": 1012,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865058.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Arg",
"transcript": "ENST00000638357.1",
"protein_id": "ENSP00000492865.1",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 426,
"cds_start": 817,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638357.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "XM_047419823.1",
"protein_id": "XP_047275779.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 954,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419823.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Gly104Arg",
"transcript": "XM_017001246.2",
"protein_id": "XP_016856735.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 597,
"cds_start": 310,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001246.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "XM_047419829.1",
"protein_id": "XP_047275785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.1405G>A",
"hgvs_p": null,
"transcript": "ENST00000638960.1",
"protein_id": "ENSP00000492302.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.975G>A",
"hgvs_p": null,
"transcript": "ENST00000640243.1",
"protein_id": "ENSP00000492803.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.1056G>A",
"hgvs_p": null,
"transcript": "ENST00000640522.1",
"protein_id": "ENSP00000491019.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.1405G>A",
"hgvs_p": null,
"transcript": "ENST00000640528.1",
"protein_id": "ENSP00000491725.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.1405G>A",
"hgvs_p": null,
"transcript": "ENST00000640710.1",
"protein_id": "ENSP00000492513.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640710.1"
}
],
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"dbsnp": "rs730882175",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9835863709449768,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.988,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.624,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.2,
"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": "NM_172362.3",
"gene_symbol": "KCNH1",
"hgnc_id": 6250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Gly496Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,See cases,Temple-Baraitser syndrome,Zimmermann-Laband syndrome 1,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 LP:1",
"phenotype_combined": "Zimmermann-Laband syndrome 1|not provided|Inborn genetic diseases|See cases|Temple-Baraitser syndrome|Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}