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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: 1-228307089-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228307089&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228307089,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001386125.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.14986G>A",
"hgvs_p": "p.Gly4996Arg",
"transcript": "NM_001386125.1",
"protein_id": "NP_001373054.1",
"transcript_support_level": null,
"aa_start": 4996,
"aa_end": null,
"aa_length": 8925,
"cds_start": 14986,
"cds_end": null,
"cds_length": 26778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680850.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386125.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.14986G>A",
"hgvs_p": "p.Gly4996Arg",
"transcript": "ENST00000680850.1",
"protein_id": "ENSP00000505517.1",
"transcript_support_level": null,
"aa_start": 4996,
"aa_end": null,
"aa_length": 8925,
"cds_start": 14986,
"cds_end": null,
"cds_length": 26778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386125.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680850.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.12115G>A",
"hgvs_p": "p.Gly4039Arg",
"transcript": "ENST00000636476.2",
"protein_id": "ENSP00000489816.2",
"transcript_support_level": 1,
"aa_start": 4039,
"aa_end": null,
"aa_length": 7969,
"cds_start": 12115,
"cds_end": null,
"cds_length": 23910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636476.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.14986G>A",
"hgvs_p": "p.Gly4996Arg",
"transcript": "NM_001271223.3",
"protein_id": "NP_001258152.2",
"transcript_support_level": null,
"aa_start": 4996,
"aa_end": null,
"aa_length": 8923,
"cds_start": 14986,
"cds_end": null,
"cds_length": 26772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271223.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.14986G>A",
"hgvs_p": "p.Gly4996Arg",
"transcript": "ENST00000570156.7",
"protein_id": "ENSP00000455507.2",
"transcript_support_level": 5,
"aa_start": 4996,
"aa_end": null,
"aa_length": 8923,
"cds_start": 14986,
"cds_end": null,
"cds_length": 26772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570156.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 110,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.13660G>A",
"hgvs_p": "p.Gly4554Arg",
"transcript": "ENST00000662438.1",
"protein_id": "ENSP00000499633.1",
"transcript_support_level": null,
"aa_start": 4554,
"aa_end": null,
"aa_length": 8483,
"cds_start": 13660,
"cds_end": null,
"cds_length": 25452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662438.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.12115G>A",
"hgvs_p": "p.Gly4039Arg",
"transcript": "NM_001098623.2",
"protein_id": "NP_001092093.2",
"transcript_support_level": null,
"aa_start": 4039,
"aa_end": null,
"aa_length": 7968,
"cds_start": 12115,
"cds_end": null,
"cds_length": 23907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098623.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.12115G>A",
"hgvs_p": "p.Gly4039Arg",
"transcript": "ENST00000422127.5",
"protein_id": "ENSP00000409493.1",
"transcript_support_level": 5,
"aa_start": 4039,
"aa_end": null,
"aa_length": 7968,
"cds_start": 12115,
"cds_end": null,
"cds_length": 23907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422127.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.12115G>A",
"hgvs_p": "p.Gly4039Arg",
"transcript": "NM_052843.4",
"protein_id": "NP_443075.3",
"transcript_support_level": null,
"aa_start": 4039,
"aa_end": null,
"aa_length": 6620,
"cds_start": 12115,
"cds_end": null,
"cds_length": 19863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052843.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.12115G>A",
"hgvs_p": "p.Gly4039Arg",
"transcript": "ENST00000284548.16",
"protein_id": "ENSP00000284548.11",
"transcript_support_level": 2,
"aa_start": 4039,
"aa_end": null,
"aa_length": 6620,
"cds_start": 12115,
"cds_end": null,
"cds_length": 19863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284548.16"
}
],
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"dbsnp": "rs435776",
"frequency_reference_population": 0.46011296,
"hom_count_reference_population": 179831,
"allele_count_reference_population": 742430,
"gnomad_exomes_af": 0.469409,
"gnomad_genomes_af": 0.370777,
"gnomad_exomes_ac": 686043,
"gnomad_genomes_ac": 56387,
"gnomad_exomes_homalt": 166991,
"gnomad_genomes_homalt": 12840,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00018668174743652344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.2975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.596,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001386125.1",
"gene_symbol": "OBSCN",
"hgnc_id": 15719,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.14986G>A",
"hgvs_p": "p.Gly4996Arg"
}
],
"clinvar_disease": "OBSCN-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "OBSCN-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}