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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: 13-113115754-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113115754&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113115754,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000346342.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.His153Gln",
"transcript": "NM_019616.4",
"protein_id": "NP_062562.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 444,
"cds_start": 459,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": "ENST00000346342.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.459C>G",
"hgvs_p": "p.His153Gln",
"transcript": "ENST00000346342.8",
"protein_id": "ENSP00000329546.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 444,
"cds_start": 459,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": "NM_019616.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.525C>G",
"hgvs_p": "p.His175Gln",
"transcript": "ENST00000375581.3",
"protein_id": "ENSP00000364731.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 466,
"cds_start": 525,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.525C>G",
"hgvs_p": "p.His175Gln",
"transcript": "NM_000131.5",
"protein_id": "NP_000122.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 466,
"cds_start": 525,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.His91Gln",
"transcript": "NM_001267554.2",
"protein_id": "NP_001254483.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 382,
"cds_start": 273,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.His91Gln",
"transcript": "ENST00000541084.5",
"protein_id": "ENSP00000442051.2",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 382,
"cds_start": 273,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.His204Gln",
"transcript": "XM_011537474.3",
"protein_id": "XP_011535776.2",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 495,
"cds_start": 612,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.483C>G",
"hgvs_p": "p.His161Gln",
"transcript": "XM_047430125.1",
"protein_id": "XP_047286081.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 452,
"cds_start": 483,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.426C>G",
"hgvs_p": "p.His142Gln",
"transcript": "XM_011537475.3",
"protein_id": "XP_011535777.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 433,
"cds_start": 426,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.219C>G",
"hgvs_p": "p.His73Gln",
"transcript": "XM_011537476.3",
"protein_id": "XP_011535778.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 364,
"cds_start": 219,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 3539,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "n.*267C>G",
"hgvs_p": null,
"transcript": "ENST00000444337.1",
"protein_id": "ENSP00000387669.1",
"transcript_support_level": 5,
"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": 564,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "n.543C>G",
"hgvs_p": null,
"transcript": "NR_051961.2",
"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": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "n.*267C>G",
"hgvs_p": null,
"transcript": "ENST00000444337.1",
"protein_id": "ENSP00000387669.1",
"transcript_support_level": 5,
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "n.698-1012C>G",
"hgvs_p": null,
"transcript": "ENST00000479674.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.410-1012C>G",
"hgvs_p": null,
"transcript": "XM_006719963.4",
"protein_id": "XP_006720026.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"dbsnp": "rs6042",
"frequency_reference_population": 0.0000041071416,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410714,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12077155709266663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.3175,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.131,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000346342.8",
"gene_symbol": "F7",
"hgnc_id": 3544,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.459C>G",
"hgvs_p": "p.His153Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}