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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: 7-23165779-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23165779&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "KLHL7",
"hgnc_id": 15646,
"hgvs_c": "c.1022delT",
"hgvs_p": "p.Leu341fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001031710.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Cold-induced sweating syndrome 1,PERCHING syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 586,
"aa_ref": "L",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1022,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001031710.3",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.1022delT",
"hgvs_p": "p.Leu341fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000339077.10",
"protein_coding": true,
"protein_id": "NP_001026880.2",
"strand": true,
"transcript": "NM_001031710.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 586,
"aa_ref": "L",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1022,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000339077.10",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.1022delT",
"hgvs_p": "p.Leu341fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031710.3",
"protein_coding": true,
"protein_id": "ENSP00000343273.4",
"strand": true,
"transcript": "ENST00000339077.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": "L",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1617,
"cds_start": 878,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409689.5",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386263.1",
"strand": true,
"transcript": "ENST00000409689.5",
"transcript_support_level": 1
},
{
"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": 3165,
"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": "ENST00000521082.5",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "n.*1030delT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430351.1",
"strand": true,
"transcript": "ENST00000521082.5",
"transcript_support_level": 1
},
{
"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": 3165,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000521082.5",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "n.*1030delT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430351.1",
"strand": true,
"transcript": "ENST00000521082.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": "L",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895457.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.1061delT",
"hgvs_p": "p.Leu354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565516.1",
"strand": true,
"transcript": "ENST00000895457.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 552,
"aa_ref": "L",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1659,
"cds_start": 920,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895458.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.920delT",
"hgvs_p": "p.Leu307fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565517.1",
"strand": true,
"transcript": "ENST00000895458.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": "L",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5391,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1617,
"cds_start": 878,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_018846.5",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061334.4",
"strand": true,
"transcript": "NM_018846.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "L",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1449,
"cds_start": 710,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952765.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.710delT",
"hgvs_p": "p.Leu237fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622824.1",
"strand": true,
"transcript": "ENST00000952765.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": "L",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1443,
"cds_start": 704,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923179.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.704delT",
"hgvs_p": "p.Leu235fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593238.1",
"strand": true,
"transcript": "ENST00000923179.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": "L",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1410,
"cds_start": 671,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923180.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.671delT",
"hgvs_p": "p.Leu224fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593239.1",
"strand": true,
"transcript": "ENST00000923180.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 314,
"aa_ref": "L",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 424,
"cds_end": null,
"cds_length": 945,
"cds_start": 206,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952766.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "c.206delT",
"hgvs_p": "p.Leu69fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622825.1",
"strand": true,
"transcript": "ENST00000952766.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5750,
"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": "NR_033328.2",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "n.1395delT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_033328.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 331,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469576.1",
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"hgvs_c": "n.-95delT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469576.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs879255557",
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15646,
"gene_symbol": "KLHL7",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Pathogenic",
"phenotype_combined": "PERCHING syndrome|Cold-induced sweating syndrome 1",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"pos": 23165779,
"ref": "AT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001031710.3"
}
]
}