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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: 14-76803428-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=76803428&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 76803428,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001370746.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1561G>T",
"hgvs_p": "p.Ala521Ser",
"transcript": "NM_015305.4",
"protein_id": "NP_056120.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 670,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251089.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015305.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1561G>T",
"hgvs_p": "p.Ala521Ser",
"transcript": "ENST00000251089.8",
"protein_id": "ENSP00000251089.3",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 670,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015305.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251089.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1720G>T",
"hgvs_p": "p.Ala574Ser",
"transcript": "NM_001370746.1",
"protein_id": "NP_001357675.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 744,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370746.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1720G>T",
"hgvs_p": "p.Ala574Ser",
"transcript": "NM_001370747.1",
"protein_id": "NP_001357676.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 723,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370747.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1720G>T",
"hgvs_p": "p.Ala574Ser",
"transcript": "ENST00000851327.1",
"protein_id": "ENSP00000521386.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 723,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851327.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1561G>T",
"hgvs_p": "p.Ala521Ser",
"transcript": "NM_001370748.1",
"protein_id": "NP_001357677.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 691,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370748.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1600G>T",
"hgvs_p": "p.Ala534Ser",
"transcript": "ENST00000557497.2",
"protein_id": "ENSP00000498076.2",
"transcript_support_level": 2,
"aa_start": 534,
"aa_end": null,
"aa_length": 683,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557497.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.1561G>T",
"hgvs_p": "p.Ala521Ser",
"transcript": "ENST00000939771.1",
"protein_id": "ENSP00000609830.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 633,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939771.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Ala86Ser",
"transcript": "ENST00000557179.5",
"protein_id": "ENSP00000451534.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 235,
"cds_start": 256,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557179.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "c.-30G>T",
"hgvs_p": null,
"transcript": "ENST00000555079.1",
"protein_id": "ENSP00000452287.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555079.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "n.1561G>T",
"hgvs_p": null,
"transcript": "ENST00000554058.2",
"protein_id": "ENSP00000519383.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000554058.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"hgvs_c": "n.1561G>T",
"hgvs_p": null,
"transcript": "ENST00000556072.3",
"protein_id": "ENSP00000519384.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000556072.3"
}
],
"gene_symbol": "ANGEL1",
"gene_hgnc_id": 19961,
"dbsnp": "rs375071846",
"frequency_reference_population": 0.000006195088,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547244,
"gnomad_genomes_af": 0.0000131309,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6921825408935547,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.468,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.21,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370746.1",
"gene_symbol": "ANGEL1",
"hgnc_id": 19961,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1720G>T",
"hgvs_p": "p.Ala574Ser"
}
],
"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
}