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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: 4-154565913-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=154565913&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 154565913,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000302068.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_005141.5",
"protein_id": "NP_005132.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 491,
"cds_start": 220,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": "ENST00000302068.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "ENST00000302068.9",
"protein_id": "ENSP00000306099.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 491,
"cds_start": 220,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": "NM_005141.5",
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "n.227C>T",
"hgvs_p": null,
"transcript": "ENST00000497097.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382763.1",
"protein_id": "NP_001369692.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 488,
"cds_start": 220,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382765.1",
"protein_id": "NP_001369694.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 483,
"cds_start": 220,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382759.1",
"protein_id": "NP_001369688.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 447,
"cds_start": 220,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382760.1",
"protein_id": "NP_001369689.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 425,
"cds_start": 220,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382761.1",
"protein_id": "NP_001369690.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 414,
"cds_start": 220,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382762.1",
"protein_id": "NP_001369691.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 391,
"cds_start": 220,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "NM_001382764.1",
"protein_id": "NP_001369693.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 362,
"cds_start": 220,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3504,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000425838.5",
"protein_id": "ENSP00000398719.1",
"transcript_support_level": 4,
"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": 565,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "n.133C>T",
"hgvs_p": null,
"transcript": "ENST00000473984.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 665,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "n.850C>T",
"hgvs_p": null,
"transcript": "ENST00000498375.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 970,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "n.201C>T",
"hgvs_p": null,
"transcript": "ENST00000502545.5",
"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": 1320,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000425838.5",
"protein_id": "ENSP00000398719.1",
"transcript_support_level": 4,
"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": 565,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.165+55C>T",
"hgvs_p": null,
"transcript": "NM_001184741.1",
"protein_id": "NP_001171670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3451,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"hgvs_c": "c.-167-1680C>T",
"hgvs_p": null,
"transcript": "ENST00000509493.1",
"protein_id": "ENSP00000426757.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGB",
"gene_hgnc_id": 3662,
"dbsnp": "rs121909619",
"frequency_reference_population": 0.0000037176517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342045,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9763914346694946,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.591,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6155,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.409,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302068.9",
"gene_symbol": "FGB",
"hgnc_id": 3662,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys"
}
],
"clinvar_disease": "FIBRINOGEN NIJMEGEN",
"clinvar_classification": "other",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "FIBRINOGEN NIJMEGEN",
"pathogenicity_classification_combined": "other",
"custom_annotations": null
}
],
"message": null
}