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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: 16-31190398-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31190398&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31190398,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000254108.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "NM_004960.4",
"protein_id": "NP_004951.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 526,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": "ENST00000254108.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "ENST00000254108.12",
"protein_id": "ENSP00000254108.8",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 526,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": "NM_004960.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"transcript": "ENST00000380244.8",
"protein_id": "ENSP00000369594.3",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 525,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.*465C>T",
"hgvs_p": null,
"transcript": "ENST00000566605.5",
"protein_id": "ENSP00000455073.1",
"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": 1787,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.*465C>T",
"hgvs_p": null,
"transcript": "ENST00000566605.5",
"protein_id": "ENSP00000455073.1",
"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": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1295C>T",
"hgvs_p": "p.Pro432Leu",
"transcript": "ENST00000568685.1",
"protein_id": "ENSP00000455282.1",
"transcript_support_level": 5,
"aa_start": 432,
"aa_end": null,
"aa_length": 527,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"transcript": "NM_001170634.1",
"protein_id": "NP_001164105.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 525,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Pro429Leu",
"transcript": "ENST00000715542.1",
"protein_id": "ENSP00000520462.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 524,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1280C>T",
"hgvs_p": "p.Pro427Leu",
"transcript": "NM_001170937.1",
"protein_id": "NP_001164408.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 522,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Pro429Leu",
"transcript": "XM_011545781.2",
"protein_id": "XP_011544083.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 524,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Pro428Leu",
"transcript": "XM_024450221.2",
"protein_id": "XP_024305989.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 523,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "XM_011545782.3",
"protein_id": "XP_011544084.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 321,
"cds_start": 677,
"cds_end": null,
"cds_length": 966,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.586C>T",
"hgvs_p": null,
"transcript": "ENST00000474990.5",
"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": 827,
"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": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.26C>T",
"hgvs_p": null,
"transcript": "ENST00000483853.1",
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.4467C>T",
"hgvs_p": null,
"transcript": "ENST00000487509.6",
"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": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.183C>T",
"hgvs_p": null,
"transcript": "ENST00000569760.5",
"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": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.*1041C>T",
"hgvs_p": null,
"transcript": "ENST00000715541.1",
"protein_id": "ENSP00000520461.1",
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.1362C>T",
"hgvs_p": null,
"transcript": "NR_028388.2",
"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": 5084,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.*1041C>T",
"hgvs_p": null,
"transcript": "ENST00000715541.1",
"protein_id": "ENSP00000520461.1",
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"dbsnp": "rs186547381",
"frequency_reference_population": 0.00012638497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 204,
"gnomad_exomes_af": 0.000122447,
"gnomad_genomes_af": 0.000164199,
"gnomad_exomes_ac": 179,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6289858818054199,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.41600000858306885,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.522,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.539,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.21496113224082,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000254108.12",
"gene_symbol": "FUS",
"hgnc_id": 4010,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu"
}
],
"clinvar_disease": " 4, hereditary essential,Amyotrophic lateral sclerosis,Amyotrophic lateral sclerosis type 6,FUS-related disorder,Frontotemporal dementia,Inborn genetic diseases,Tremor,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "Tremor, hereditary essential, 4|not provided|Tremor, hereditary essential, 4;Amyotrophic lateral sclerosis type 6|Frontotemporal dementia|Inborn genetic diseases|Amyotrophic lateral sclerosis|FUS-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}