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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: 14-92932460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92932460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92932460,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001275.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "NM_001275.4",
"protein_id": "NP_001266.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 457,
"cds_start": 899,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216492.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001275.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000216492.10",
"protein_id": "ENSP00000216492.5",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 457,
"cds_start": 899,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001275.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216492.10"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Phe",
"transcript": "ENST00000334654.4",
"protein_id": "ENSP00000334023.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 306,
"cds_start": 446,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334654.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ser310Phe",
"transcript": "ENST00000903324.1",
"protein_id": "ENSP00000573383.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 467,
"cds_start": 929,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903324.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ser310Phe",
"transcript": "ENST00000903325.1",
"protein_id": "ENSP00000573384.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 467,
"cds_start": 929,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903325.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000903321.1",
"protein_id": "ENSP00000573380.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 457,
"cds_start": 899,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903321.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000903323.1",
"protein_id": "ENSP00000573382.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 455,
"cds_start": 899,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903323.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ser253Phe",
"transcript": "ENST00000903322.1",
"protein_id": "ENSP00000573381.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 410,
"cds_start": 758,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903322.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Phe",
"transcript": "NM_001301690.2",
"protein_id": "NP_001288619.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 306,
"cds_start": 446,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301690.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ser102Phe",
"transcript": "ENST00000967838.1",
"protein_id": "ENSP00000637897.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 259,
"cds_start": 305,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967838.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ser79Phe",
"transcript": "ENST00000967839.1",
"protein_id": "ENSP00000637898.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 236,
"cds_start": 236,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967839.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "XM_011536370.3",
"protein_id": "XP_011534672.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 457,
"cds_start": 899,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536370.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "n.117C>T",
"hgvs_p": null,
"transcript": "ENST00000556876.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000556876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"hgvs_c": "n.*192C>T",
"hgvs_p": null,
"transcript": "ENST00000553866.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000553866.1"
}
],
"gene_symbol": "CHGA",
"gene_hgnc_id": 1929,
"dbsnp": "rs753407523",
"frequency_reference_population": 7.1085736e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.10857e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18126338720321655,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.1015,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.894,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001275.4",
"gene_symbol": "CHGA",
"hgnc_id": 1929,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe"
}
],
"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
}