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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: 5-39202016-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=39202016&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 39202016,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000512982.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "NM_001465.6",
"protein_id": "NP_001456.3",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": "ENST00000512982.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "ENST00000512982.4",
"protein_id": "ENSP00000425845.3",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": "NM_001465.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "ENST00000351578.12",
"protein_id": "ENSP00000316460.7",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 783,
"cds_start": 945,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "ENST00000515010.5",
"protein_id": "ENSP00000426346.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 783,
"cds_start": 945,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "NM_001243093.2",
"protein_id": "NP_001230022.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 839,
"cds_start": 975,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "ENST00000646045.2",
"protein_id": "ENSP00000493623.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 839,
"cds_start": 975,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "NM_001349333.2",
"protein_id": "NP_001336262.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "NM_018594.2",
"protein_id": "NP_061064.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 793,
"cds_start": 975,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "NM_199335.5",
"protein_id": "NP_955367.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 783,
"cds_start": 945,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "XM_011514008.3",
"protein_id": "XP_011512310.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 839,
"cds_start": 975,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "XM_047417071.1",
"protein_id": "XP_047273027.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 839,
"cds_start": 975,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_006714464.4",
"protein_id": "XP_006714527.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_011514009.1",
"protein_id": "XP_011512311.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_011514010.2",
"protein_id": "XP_011512312.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_047417072.1",
"protein_id": "XP_047273028.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_047417073.1",
"protein_id": "XP_047273029.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn",
"transcript": "XM_047417074.1",
"protein_id": "XP_047273030.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 829,
"cds_start": 945,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "XM_011514011.3",
"protein_id": "XP_011512313.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 793,
"cds_start": 975,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "XM_011514012.4",
"protein_id": "XP_011512314.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 692,
"cds_start": 975,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Lys325Asn",
"transcript": "XM_011514013.4",
"protein_id": "XP_011512315.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 552,
"cds_start": 975,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FYB1",
"gene_hgnc_id": 4036,
"dbsnp": "rs201570574",
"frequency_reference_population": 0.000478964,
"hom_count_reference_population": 1,
"allele_count_reference_population": 773,
"gnomad_exomes_af": 0.00050147,
"gnomad_genomes_af": 0.000262816,
"gnomad_exomes_ac": 733,
"gnomad_genomes_ac": 40,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08776852488517761,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.4224,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.632,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000512982.4",
"gene_symbol": "FYB1",
"hgnc_id": 4036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Lys315Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}