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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: 2-105361363-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=105361363&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 105361363,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318895.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_001318895.3",
"protein_id": "NP_001305824.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": "ENST00000530340.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000530340.6",
"protein_id": "ENSP00000433567.2",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": "NM_001318895.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000322142.13",
"protein_id": "ENSP00000322909.8",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000344213.9",
"protein_id": "ENSP00000344266.5",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000393352.7",
"protein_id": "ENSP00000377020.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000393353.7",
"protein_id": "ENSP00000377021.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000409177.6",
"protein_id": "ENSP00000386892.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000409807.5",
"protein_id": "ENSP00000386665.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_001039492.3",
"protein_id": "NP_001034581.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_001318894.1",
"protein_id": "NP_001305823.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_001318896.2",
"protein_id": "NP_001305825.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_001374399.1",
"protein_id": "NP_001361328.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_001450.4",
"protein_id": "NP_001441.4",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_201555.3",
"protein_id": "NP_963849.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
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"cds_length": 840,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "NM_201557.5",
"protein_id": "NP_963851.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
"cds_end": null,
"cds_length": 840,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly",
"transcript": "ENST00000408995.5",
"protein_id": "ENSP00000386633.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 760,
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"cdna_start": 865,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "NM_001318899.2",
"protein_id": "NP_001305828.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 171,
"cds_start": 436,
"cds_end": null,
"cds_length": 516,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.418T>G",
"hgvs_p": "p.Cys140Gly",
"transcript": "NM_001318897.2",
"protein_id": "NP_001305826.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 165,
"cds_start": 418,
"cds_end": null,
"cds_length": 498,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.418T>G",
"hgvs_p": "p.Cys140Gly",
"transcript": "NM_001318898.2",
"protein_id": "NP_001305827.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 165,
"cds_start": 418,
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"cdna_start": 870,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.*129T>G",
"hgvs_p": null,
"transcript": "ENST00000358129.8",
"protein_id": "ENSP00000350846.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1578,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C2orf49",
"gene_hgnc_id": 28772,
"hgvs_c": "n.765+15974A>C",
"hgvs_p": null,
"transcript": "XR_007081585.1",
"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,
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"cdna_length": 2636,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "C2orf49",
"gene_hgnc_id": 28772,
"hgvs_c": "n.639+15974A>C",
"hgvs_p": null,
"transcript": "XR_007081586.1",
"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": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"dbsnp": "rs750884671",
"frequency_reference_population": 0.000004104523,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410452,
"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": 0.9555397033691406,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.987,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9892,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"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": "PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318895.3",
"gene_symbol": "FHL2",
"hgnc_id": 3703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Cys254Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007081585.1",
"gene_symbol": "C2orf49",
"hgnc_id": 28772,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.765+15974A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}