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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: 15-30937217-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=30937217&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 30937217,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_014967.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "NM_014967.5",
"protein_id": "NP_055782.3",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000362065.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014967.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000362065.9",
"protein_id": "ENSP00000354497.4",
"transcript_support_level": 1,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014967.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362065.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*1856T>C",
"hgvs_p": null,
"transcript": "ENST00000565280.5",
"protein_id": "ENSP00000455573.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565280.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*1856T>C",
"hgvs_p": null,
"transcript": "ENST00000565280.5",
"protein_id": "ENSP00000455573.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565280.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3159T>C",
"hgvs_p": "p.His1053His",
"transcript": "ENST00000915272.1",
"protein_id": "ENSP00000585331.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3159,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915272.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3030T>C",
"hgvs_p": "p.His1010His",
"transcript": "ENST00000879296.1",
"protein_id": "ENSP00000549355.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1022,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879296.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3030T>C",
"hgvs_p": "p.His1010His",
"transcript": "ENST00000879300.1",
"protein_id": "ENSP00000549359.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1022,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879300.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000656435.1",
"protein_id": "ENSP00000499534.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656435.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000657391.1",
"protein_id": "ENSP00000499703.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657391.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000670849.1",
"protein_id": "ENSP00000499638.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670849.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000879297.1",
"protein_id": "ENSP00000549356.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879297.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000879299.1",
"protein_id": "ENSP00000549358.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879299.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000879301.1",
"protein_id": "ENSP00000549360.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879301.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000915271.1",
"protein_id": "ENSP00000585330.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915271.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000915273.1",
"protein_id": "ENSP00000585332.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915273.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His",
"transcript": "ENST00000967654.1",
"protein_id": "ENSP00000637713.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967654.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.3000T>C",
"hgvs_p": "p.His1000His",
"transcript": "ENST00000967653.1",
"protein_id": "ENSP00000637712.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1012,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967653.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2955T>C",
"hgvs_p": "p.His985His",
"transcript": "ENST00000967655.1",
"protein_id": "ENSP00000637714.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 997,
"cds_start": 2955,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967655.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2886T>C",
"hgvs_p": "p.His962His",
"transcript": "ENST00000915277.1",
"protein_id": "ENSP00000585336.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 974,
"cds_start": 2886,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915277.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2883T>C",
"hgvs_p": "p.His961His",
"transcript": "ENST00000879298.1",
"protein_id": "ENSP00000549357.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 973,
"cds_start": 2883,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879298.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2883T>C",
"hgvs_p": "p.His961His",
"transcript": "ENST00000915276.1",
"protein_id": "ENSP00000585335.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 973,
"cds_start": 2883,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915276.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2883T>C",
"hgvs_p": "p.His961His",
"transcript": "ENST00000967652.1",
"protein_id": "ENSP00000637711.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 973,
"cds_start": 2883,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
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}
],
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"dbsnp": "rs2955795",
"frequency_reference_population": 0.45296964,
"hom_count_reference_population": 174047,
"allele_count_reference_population": 730669,
"gnomad_exomes_af": 0.459157,
"gnomad_genomes_af": 0.393515,
"gnomad_exomes_ac": 670839,
"gnomad_genomes_ac": 59830,
"gnomad_exomes_homalt": 160347,
"gnomad_genomes_homalt": 13700,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.817,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014967.5",
"gene_symbol": "FAN1",
"hgnc_id": 29170,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3015T>C",
"hgvs_p": "p.His1005His"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_047432771.1",
"gene_symbol": "MTMR10",
"hgnc_id": 25999,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1549-8407A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Karyomegalic interstitial nephritis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided|Karyomegalic interstitial nephritis",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}