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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: 1-210797718-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210797718&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNH1",
"hgnc_id": 6250,
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_172362.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9874,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7129475474357605,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 989,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8140,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_172362.3",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271751.10",
"protein_coding": true,
"protein_id": "NP_758872.1",
"strand": false,
"transcript": "NM_172362.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 989,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8140,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000271751.10",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172362.3",
"protein_coding": true,
"protein_id": "ENSP00000271751.4",
"strand": false,
"transcript": "ENST00000271751.10",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 962,
"aa_ref": "V",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8075,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000639952.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492697.1",
"strand": false,
"transcript": "ENST00000639952.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "V",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1818,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000640044.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Val185Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491434.1",
"strand": false,
"transcript": "ENST00000640044.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": null,
"cds_end": null,
"cds_length": 1365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640566.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.311-22174G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491302.1",
"strand": false,
"transcript": "ENST00000640566.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 962,
"aa_ref": "V",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8059,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002238.4",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002229.1",
"strand": false,
"transcript": "NM_002238.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 940,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2823,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000638498.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490983.1",
"strand": false,
"transcript": "ENST00000638498.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 913,
"aa_ref": "V",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367007.5",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355974.5",
"strand": false,
"transcript": "ENST00000367007.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 831,
"aa_ref": "V",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000865058.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535117.1",
"strand": false,
"transcript": "ENST00000865058.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1281,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638357.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Val346Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492865.1",
"strand": false,
"transcript": "ENST00000638357.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 954,
"aa_ref": "V",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419823.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275779.1",
"strand": false,
"transcript": "XM_047419823.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 597,
"aa_ref": "V",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7246,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1794,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017001246.2",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856735.1",
"strand": false,
"transcript": "XM_017001246.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 485,
"aa_ref": "V",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6545,
"cdna_start": 313,
"cds_end": null,
"cds_length": 1458,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047419829.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Val65Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275785.1",
"strand": false,
"transcript": "XM_047419829.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000638960.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.1624G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492302.1",
"strand": false,
"transcript": "ENST00000638960.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000640243.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.*210G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492803.1",
"strand": false,
"transcript": "ENST00000640243.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000640522.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.*210G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491019.1",
"strand": false,
"transcript": "ENST00000640522.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640528.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.1624G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491725.1",
"strand": false,
"transcript": "ENST00000640528.1",
"transcript_support_level": 5
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640710.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.1624G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492513.1",
"strand": false,
"transcript": "ENST00000640710.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000640243.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.*210G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492803.1",
"strand": false,
"transcript": "ENST00000640243.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000640522.1",
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"hgvs_c": "n.*210G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491019.1",
"strand": false,
"transcript": "ENST00000640522.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1553344875",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013682211,
"gene_hgnc_id": 6250,
"gene_symbol": "KCNH1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136822,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Inborn genetic diseases|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.617,
"pos": 210797718,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.724,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_172362.3"
}
]
}