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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: 1-228097217-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228097217&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228097217,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000272102.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "NM_001658.4",
"protein_id": "NP_001649.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": "ENST00000272102.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000272102.10",
"protein_id": "ENSP00000272102.5",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": "NM_001658.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "NM_001024226.2",
"protein_id": "NP_001019397.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "NM_001024227.1",
"protein_id": "NP_001019398.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "NM_001024228.2",
"protein_id": "NP_001019399.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000470558.5",
"protein_id": "ENSP00000514654.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000478336.5",
"protein_id": "ENSP00000514657.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000478424.5",
"protein_id": "ENSP00000514653.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 181,
"cds_start": 103,
"cds_end": null,
"cds_length": 546,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000469235.5",
"protein_id": "ENSP00000514658.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 159,
"cds_start": 103,
"cds_end": null,
"cds_length": 481,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000497165.5",
"protein_id": "ENSP00000514661.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 157,
"cds_start": 103,
"cds_end": null,
"cds_length": 476,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000482962.5",
"protein_id": "ENSP00000514660.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 142,
"cds_start": 103,
"cds_end": null,
"cds_length": 429,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000473949.5",
"protein_id": "ENSP00000514655.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 141,
"cds_start": 103,
"cds_end": null,
"cds_length": 427,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000477451.5",
"protein_id": "ENSP00000514656.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 107,
"cds_start": 103,
"cds_end": null,
"cds_length": 324,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp",
"transcript": "ENST00000490705.2",
"protein_id": "ENSP00000514662.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 85,
"cds_start": 103,
"cds_end": null,
"cds_length": 259,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "n.176T>G",
"hgvs_p": null,
"transcript": "ENST00000470670.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3620",
"gene_hgnc_id": 38917,
"hgvs_c": "n.-46T>G",
"hgvs_p": null,
"transcript": "ENST00000584469.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 79,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3620",
"gene_hgnc_id": 38917,
"hgvs_c": "n.-46T>G",
"hgvs_p": null,
"transcript": "NR_037415.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 79,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3620",
"gene_hgnc_id": 38917,
"hgvs_c": "n.-68T>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_299",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3620",
"gene_hgnc_id": 38917,
"hgvs_c": "n.-103T>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_300",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"hgvs_c": "c.*18T>G",
"hgvs_p": null,
"transcript": "ENST00000473546.1",
"protein_id": "ENSP00000514659.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": -4,
"cds_end": null,
"cds_length": 85,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARF1",
"gene_hgnc_id": 652,
"dbsnp": "rs879036238",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9448258876800537,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.889,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.953,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000272102.10",
"gene_symbol": "ARF1",
"hgnc_id": 652,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Tyr35Asp"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_037415.1",
"gene_symbol": "MIR3620",
"hgnc_id": 38917,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-46T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Periventricular nodular heterotopia 8",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Periventricular nodular heterotopia 8",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}