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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: 4-20850664-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=20850664&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 20850664,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025221.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Ser56Asn",
"transcript": "NM_025221.6",
"protein_id": "NP_079497.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 250,
"cds_start": 167,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382152.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025221.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Ser56Asn",
"transcript": "ENST00000382152.7",
"protein_id": "ENSP00000371587.2",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 250,
"cds_start": 167,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025221.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382152.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Ser39Asn",
"transcript": "ENST00000382149.9",
"protein_id": "ENSP00000494651.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 233,
"cds_start": 116,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382149.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Ser35Asn",
"transcript": "ENST00000382150.8",
"protein_id": "ENSP00000371585.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 229,
"cds_start": 104,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382150.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Ser31Asn",
"transcript": "ENST00000382148.7",
"protein_id": "ENSP00000371583.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 225,
"cds_start": 92,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382148.7"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.-20G>A",
"hgvs_p": null,
"transcript": "ENST00000509207.1",
"protein_id": "ENSP00000423257.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509207.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Ser39Asn",
"transcript": "NM_001363504.2",
"protein_id": "NP_001350433.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 233,
"cds_start": 116,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363504.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Ser35Asn",
"transcript": "NM_147183.3",
"protein_id": "NP_671712.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 229,
"cds_start": 104,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147183.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Ser31Asn",
"transcript": "NM_001035003.2",
"protein_id": "NP_001030175.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 225,
"cds_start": 92,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035003.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "NM_147181.4",
"protein_id": "NP_671710.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 216,
"cds_start": 65,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147181.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000447367.6",
"protein_id": "ENSP00000399080.2",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 216,
"cds_start": 65,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447367.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Ser31Asn",
"transcript": "XM_011513885.4",
"protein_id": "XP_011512187.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 232,
"cds_start": 92,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513885.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.-20G>A",
"hgvs_p": null,
"transcript": "NM_001035004.2",
"protein_id": "NP_001030176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035004.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.-20G>A",
"hgvs_p": null,
"transcript": "NM_147182.4",
"protein_id": "NP_671711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147182.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "n.*72G>A",
"hgvs_p": null,
"transcript": "ENST00000515786.2",
"protein_id": "ENSP00000445321.1",
"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": "ENST00000515786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "n.*72G>A",
"hgvs_p": null,
"transcript": "ENST00000515786.2",
"protein_id": "ENSP00000445321.1",
"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": "ENST00000515786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "n.108-1G>A",
"hgvs_p": null,
"transcript": "ENST00000515373.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000515373.1"
}
],
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"dbsnp": null,
"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": 0.15982332825660706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.1069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.159,
"phylop100way_prediction": "Benign",
"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": 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": "NM_025221.6",
"gene_symbol": "KCNIP4",
"hgnc_id": 30083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Ser56Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}