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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: 11-65863604-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65863604&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65863604,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350283.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_025128.5",
"protein_id": "NP_079404.3",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 551,
"cds_start": 844,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308110.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025128.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000308110.9",
"protein_id": "ENSP00000307853.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 551,
"cds_start": 844,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025128.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308110.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_001350283.2",
"protein_id": "NP_001337212.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 552,
"cds_start": 844,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350283.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000907324.1",
"protein_id": "ENSP00000577383.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 551,
"cds_start": 844,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907324.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000971503.1",
"protein_id": "ENSP00000641562.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 551,
"cds_start": 844,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971503.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"transcript": "ENST00000971504.1",
"protein_id": "ENSP00000641563.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 521,
"cds_start": 751,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971504.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Gly207Arg",
"transcript": "ENST00000533035.5",
"protein_id": "ENSP00000432287.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 476,
"cds_start": 619,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533035.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000529374.5",
"protein_id": "ENSP00000434305.1",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 409,
"cds_start": 616,
"cds_end": null,
"cds_length": 1231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529374.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000530111.1",
"protein_id": "ENSP00000433809.1",
"transcript_support_level": 3,
"aa_start": 184,
"aa_end": null,
"aa_length": 229,
"cds_start": 551,
"cds_end": null,
"cds_length": 691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530111.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "XM_011545269.2",
"protein_id": "XP_011543571.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 552,
"cds_start": 844,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545269.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "XM_011545270.2",
"protein_id": "XP_011543572.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 551,
"cds_start": 844,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545270.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "XM_047427635.1",
"protein_id": "XP_047283591.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 425,
"cds_start": 844,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427635.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "XM_047427636.1",
"protein_id": "XP_047283592.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 424,
"cds_start": 844,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_047427637.1",
"protein_id": "XP_047283593.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 324,
"cds_start": 866,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427637.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_047427638.1",
"protein_id": "XP_047283594.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 324,
"cds_start": 866,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.736G>A",
"hgvs_p": null,
"transcript": "ENST00000524647.5",
"protein_id": "ENSP00000433473.1",
"transcript_support_level": 5,
"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": "ENST00000524647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.227G>A",
"hgvs_p": null,
"transcript": "ENST00000530928.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000530928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.1179G>A",
"hgvs_p": null,
"transcript": "ENST00000531905.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000531905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.1165G>A",
"hgvs_p": null,
"transcript": "NR_146598.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_146598.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.-29G>A",
"hgvs_p": null,
"transcript": "ENST00000525147.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000525147.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.-202G>A",
"hgvs_p": null,
"transcript": "ENST00000525224.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000525224.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.*182G>A",
"hgvs_p": null,
"transcript": "ENST00000533555.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000533555.5"
}
],
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"dbsnp": "rs1306763011",
"frequency_reference_population": 0.0000061963165,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547312,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10854169726371765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.1019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.646,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350283.2",
"gene_symbol": "MUS81",
"hgnc_id": 29814,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}