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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: 2-8726894-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=8726894&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 8726894,
"ref": "T",
"alt": "G",
"effect": "stop_lost",
"transcript": "NM_001348738.2",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4046A>C",
"hgvs_p": "p.Ter1349Serext*?",
"transcript": "NM_001348738.2",
"protein_id": "NP_001335667.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4046,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348738.2"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3965A>C",
"hgvs_p": "p.Ter1322Serext*?",
"transcript": "ENST00000689852.1",
"protein_id": "ENSP00000510537.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3965,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689852.1"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3935A>C",
"hgvs_p": "p.Ter1312Serext*?",
"transcript": "NM_001348739.2",
"protein_id": "NP_001335668.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3935,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348739.2"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3935A>C",
"hgvs_p": "p.Ter1312Serext*?",
"transcript": "NM_001348740.2",
"protein_id": "NP_001335669.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3935,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348740.2"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3932A>C",
"hgvs_p": "p.Ter1311Serext*?",
"transcript": "NM_001348741.2",
"protein_id": "NP_001335670.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348741.2"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3932A>C",
"hgvs_p": "p.Ter1311Serext*?",
"transcript": "NM_001348742.2",
"protein_id": "NP_001335671.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348742.2"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3932A>C",
"hgvs_p": "p.Ter1311Serext*?",
"transcript": "NM_001348743.2",
"protein_id": "NP_001335672.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348743.2"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3932A>C",
"hgvs_p": "p.Ter1311Serext*?",
"transcript": "ENST00000689369.1",
"protein_id": "ENSP00000509856.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689369.1"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3932A>C",
"hgvs_p": "p.Ter1311Serext*?",
"transcript": "ENST00000693394.1",
"protein_id": "ENSP00000509014.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693394.1"
},
{
"aa_ref": "*",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3173A>C",
"hgvs_p": "p.Ter1058Serext*?",
"transcript": "ENST00000496383.5",
"protein_id": "ENSP00000420364.1",
"transcript_support_level": 5,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496383.5"
},
{
"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": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.*10+295A>C",
"hgvs_p": null,
"transcript": "ENST00000693432.1",
"protein_id": "ENSP00000510486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1373,
"cds_start": null,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000569008.2",
"protein_id": "ENSP00000491461.1",
"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": "ENST00000569008.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.990A>C",
"hgvs_p": null,
"transcript": "ENST00000693597.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000693597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.4355A>C",
"hgvs_p": null,
"transcript": "NR_145964.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145964.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.4181A>C",
"hgvs_p": null,
"transcript": "NR_145965.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145965.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000569008.2",
"protein_id": "ENSP00000491461.1",
"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": "ENST00000569008.2"
}
],
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"dbsnp": "rs1317199300",
"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": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.217,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001348738.2",
"gene_symbol": "KIDINS220",
"hgnc_id": 29508,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4046A>C",
"hgvs_p": "p.Ter1349Serext*?"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}