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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: 14-80955786-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=80955786&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 80955786,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000298171.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "NM_000369.5",
"protein_id": "NP_000360.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 764,
"cds_start": 106,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": "ENST00000298171.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "ENST00000298171.7",
"protein_id": "ENSP00000298171.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 764,
"cds_start": 106,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": "NM_000369.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "ENST00000554435.1",
"protein_id": "ENSP00000450549.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 274,
"cds_start": 106,
"cds_end": null,
"cds_length": 825,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "ENST00000342443.10",
"protein_id": "ENSP00000340113.6",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 253,
"cds_start": 106,
"cds_end": null,
"cds_length": 762,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "ENST00000554263.5",
"protein_id": "ENSP00000451202.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 231,
"cds_start": 106,
"cds_end": null,
"cds_length": 696,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-172+2392C>G",
"hgvs_p": null,
"transcript": "ENST00000555529.5",
"protein_id": "ENSP00000451137.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "ENST00000541158.6",
"protein_id": "ENSP00000441235.2",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 764,
"cds_start": 106,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "NM_001142626.3",
"protein_id": "NP_001136098.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 274,
"cds_start": 106,
"cds_end": null,
"cds_length": 825,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "NM_001018036.3",
"protein_id": "NP_001018046.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 253,
"cds_start": 106,
"cds_end": null,
"cds_length": 762,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His",
"transcript": "ENST00000642209.1",
"protein_id": "ENSP00000495625.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 89,
"cds_start": 106,
"cds_end": null,
"cds_length": 270,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 4418,
"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": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.206G>C",
"hgvs_p": null,
"transcript": "ENST00000553763.1",
"protein_id": null,
"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": 562,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.106G>C",
"hgvs_p": null,
"transcript": "ENST00000555326.5",
"protein_id": "ENSP00000451092.1",
"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": 557,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.482G>C",
"hgvs_p": null,
"transcript": "ENST00000557096.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-16+2392C>G",
"hgvs_p": null,
"transcript": "ENST00000556042.5",
"protein_id": "ENSP00000451214.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-269+2392C>G",
"hgvs_p": null,
"transcript": "ENST00000556981.5",
"protein_id": "ENSP00000451428.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 96,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"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": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.194+2392C>G",
"hgvs_p": null,
"transcript": "ENST00000554368.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-16+2392C>G",
"hgvs_p": null,
"transcript": "XM_011536492.3",
"protein_id": "XP_011534794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-269+2392C>G",
"hgvs_p": null,
"transcript": "XM_047431018.1",
"protein_id": "XP_047286974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-172+2392C>G",
"hgvs_p": null,
"transcript": "XM_047431019.1",
"protein_id": "XP_047286975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4635,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-172+3646C>G",
"hgvs_p": null,
"transcript": "XM_047431021.1",
"protein_id": "XP_047286977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
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"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-16+2392C>G",
"hgvs_p": null,
"transcript": "XM_047431022.1",
"protein_id": "XP_047286978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"dbsnp": "rs61747482",
"frequency_reference_population": 0.00696876,
"hom_count_reference_population": 47,
"allele_count_reference_population": 11249,
"gnomad_exomes_af": 0.00719009,
"gnomad_genomes_af": 0.00484474,
"gnomad_exomes_ac": 10511,
"gnomad_genomes_ac": 738,
"gnomad_exomes_homalt": 43,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006006389856338501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
"alphamissense_score": 0.1658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.113,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000298171.7",
"gene_symbol": "TSHR",
"hgnc_id": 12373,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Asp36His"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000555529.5",
"gene_symbol": "CEP128",
"hgnc_id": 20359,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-172+2392C>G",
"hgvs_p": null
}
],
"clinvar_disease": " 1, susceptibility to,Familial hyperthyroidism due to mutations in TSH receptor,Graves disease,Hypothyroidism due to TSH receptor mutations,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3 O:1",
"phenotype_combined": "not specified|Familial hyperthyroidism due to mutations in TSH receptor|Hypothyroidism due to TSH receptor mutations|not provided|Graves disease, susceptibility to, 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}