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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: 2-8726897-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=8726897&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 8726897,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001348738.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.4043A>G",
"hgvs_p": "p.Asp1348Gly",
"transcript": "NM_001348738.2",
"protein_id": "NP_001335667.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4043,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 8742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348738.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.3962A>G",
"hgvs_p": "p.Asp1321Gly",
"transcript": "ENST00000689852.1",
"protein_id": "ENSP00000510537.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3962,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 4134,
"cdna_end": null,
"cdna_length": 8526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689852.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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>G",
"hgvs_p": "p.Asp1311Gly",
"transcript": "NM_001348739.2",
"protein_id": "NP_001335668.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 8631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348739.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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>G",
"hgvs_p": "p.Asp1311Gly",
"transcript": "NM_001348740.2",
"protein_id": "NP_001335669.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3932,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 6391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348740.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.3929A>G",
"hgvs_p": "p.Asp1310Gly",
"transcript": "NM_001348741.2",
"protein_id": "NP_001335670.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3929,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348741.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.3929A>G",
"hgvs_p": "p.Asp1310Gly",
"transcript": "NM_001348742.2",
"protein_id": "NP_001335671.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3929,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 6388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348742.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.3929A>G",
"hgvs_p": "p.Asp1310Gly",
"transcript": "NM_001348743.2",
"protein_id": "NP_001335672.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3929,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 8643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348743.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.3929A>G",
"hgvs_p": "p.Asp1310Gly",
"transcript": "ENST00000689369.1",
"protein_id": "ENSP00000509856.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3929,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689369.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.3929A>G",
"hgvs_p": "p.Asp1310Gly",
"transcript": "ENST00000693394.1",
"protein_id": "ENSP00000509014.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3929,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693394.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.3170A>G",
"hgvs_p": "p.Asp1057Gly",
"transcript": "ENST00000496383.5",
"protein_id": "ENSP00000420364.1",
"transcript_support_level": 5,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 3220,
"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+292A>G",
"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": 5843,
"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.*57A>G",
"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": 8735,
"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.987A>G",
"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": 5379,
"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.4352A>G",
"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": 8881,
"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.4178A>G",
"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": 8707,
"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.*57A>G",
"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": 8735,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569008.2"
}
],
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"dbsnp": "rs150344773",
"frequency_reference_population": 0.00014277999,
"hom_count_reference_population": 1,
"allele_count_reference_population": 184,
"gnomad_exomes_af": 0.000124081,
"gnomad_genomes_af": 0.000282252,
"gnomad_exomes_ac": 141,
"gnomad_genomes_ac": 43,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005635201930999756,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.002,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001348738.2",
"gene_symbol": "KIDINS220",
"hgnc_id": 29508,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4043A>G",
"hgvs_p": "p.Asp1348Gly"
}
],
"clinvar_disease": "KIDINS220-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "KIDINS220-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}