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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: 1-228211818-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228211818&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228211818,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001386125.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "NM_001386125.1",
"protein_id": "NP_001373054.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 8925,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000680850.1",
"protein_id": "ENSP00000505517.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 8925,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000636476.2",
"protein_id": "ENSP00000489816.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 7969,
"cds_start": 35,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.239+1604A>T",
"hgvs_p": null,
"transcript": "ENST00000295012.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000295012.5"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "NM_001271223.3",
"protein_id": "NP_001258152.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 8923,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000570156.7",
"protein_id": "ENSP00000455507.2",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 8923,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 110,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000662438.1",
"protein_id": "ENSP00000499633.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 8483,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "NM_001098623.2",
"protein_id": "NP_001092093.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 7968,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000422127.5",
"protein_id": "ENSP00000409493.1",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 7968,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "NM_052843.4",
"protein_id": "NP_443075.3",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 6620,
"cds_start": 35,
"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": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000284548.16",
"protein_id": "ENSP00000284548.11",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 6620,
"cds_start": 35,
"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"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr",
"transcript": "ENST00000366704.2",
"protein_id": "ENSP00000499231.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 3010,
"cds_start": 35,
"cds_end": null,
"cds_length": 9033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366704.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.630+703A>T",
"hgvs_p": null,
"transcript": "ENST00000337335.5",
"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": "pseudogene",
"feature": "ENST00000337335.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.225+1604A>T",
"hgvs_p": null,
"transcript": "ENST00000472613.3",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000472613.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.119+703A>T",
"hgvs_p": null,
"transcript": "ENST00000656820.1",
"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": "pseudogene",
"feature": "ENST00000656820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.180+1604A>T",
"hgvs_p": null,
"transcript": "ENST00000657820.1",
"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": "pseudogene",
"feature": "ENST00000657820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.630+703A>T",
"hgvs_p": null,
"transcript": "NR_073154.1",
"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": "pseudogene",
"feature": "NR_073154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OBSCN-AS1",
"gene_hgnc_id": 32047,
"hgvs_c": "n.234+1604A>T",
"hgvs_p": null,
"transcript": "NR_073155.1",
"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": "pseudogene",
"feature": "NR_073155.1"
}
],
"gene_symbol": "OBSCN",
"gene_hgnc_id": 15719,
"dbsnp": "rs191837710",
"frequency_reference_population": 0.00467191,
"hom_count_reference_population": 27,
"allele_count_reference_population": 7296,
"gnomad_exomes_af": 0.00483046,
"gnomad_genomes_af": 0.00320011,
"gnomad_exomes_ac": 6810,
"gnomad_genomes_ac": 486,
"gnomad_exomes_homalt": 26,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0155753493309021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.669,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.15,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001386125.1",
"gene_symbol": "OBSCN",
"hgnc_id": 15719,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.35T>A",
"hgvs_p": "p.Phe12Tyr"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000295012.5",
"gene_symbol": "OBSCN-AS1",
"hgnc_id": 32047,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.239+1604A>T",
"hgvs_p": null
}
],
"clinvar_disease": "OBSCN-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not provided|OBSCN-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}