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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: 6-96203592-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=96203592&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 96203592,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006581.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "NM_006581.4",
"protein_id": "NP_006572.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": "ENST00000302103.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "ENST00000302103.6",
"protein_id": "ENSP00000302599.4",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": "NM_006581.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "XM_011535385.3",
"protein_id": "XP_011533687.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 11170,
"cdna_end": null,
"cdna_length": 23190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "XM_017010188.2",
"protein_id": "XP_016865677.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 8317,
"cdna_end": null,
"cdna_length": 20337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "XM_017010190.2",
"protein_id": "XP_016865679.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 12910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "XM_047418088.1",
"protein_id": "XP_047274044.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 12933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr",
"transcript": "XM_047418089.1",
"protein_id": "XP_047274045.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 359,
"cds_start": 437,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 13050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.302-577C>G",
"hgvs_p": null,
"transcript": "ENST00000658843.2",
"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": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.394-577C>G",
"hgvs_p": null,
"transcript": "ENST00000662501.1",
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.273-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837890.1",
"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": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.258-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837892.1",
"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": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.289-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837893.1",
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.216-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837894.1",
"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": 455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.225-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837895.1",
"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": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.237-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837896.1",
"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": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.225-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837897.1",
"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": 935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.338-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837898.1",
"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": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.213-577C>G",
"hgvs_p": null,
"transcript": "ENST00000837899.1",
"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": 452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "UFL1-AS1",
"gene_hgnc_id": 41007,
"hgvs_c": "n.9276-577C>G",
"hgvs_p": null,
"transcript": "XR_007059687.1",
"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": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FUT9",
"gene_hgnc_id": 4020,
"dbsnp": "rs771647857",
"frequency_reference_population": 0.000011773965,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000957759,
"gnomad_genomes_af": 0.0000328982,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09342899918556213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0712,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.356,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006581.4",
"gene_symbol": "FUT9",
"hgnc_id": 4020,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Ser146Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000658843.2",
"gene_symbol": "UFL1-AS1",
"hgnc_id": 41007,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.302-577C>G",
"hgvs_p": null
}
],
"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
}