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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: 19-45352511-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45352511&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45352511,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000391945.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Asp681Asn",
"transcript": "NM_000400.4",
"protein_id": "NP_000391.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 760,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": "ENST00000391945.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Asp681Asn",
"transcript": "ENST00000391945.10",
"protein_id": "ENSP00000375809.4",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 760,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": "NM_000400.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Asp681Asn",
"transcript": "ENST00000391944.8",
"protein_id": "ENSP00000375808.4",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 829,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Asp657Asn",
"transcript": "ENST00000391941.6",
"protein_id": "ENSP00000375805.2",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 705,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Asp657Asn",
"transcript": "NM_001440355.1",
"protein_id": "NP_001427284.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 736,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Asp655Asn",
"transcript": "NM_001440356.1",
"protein_id": "NP_001427285.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 734,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Asp640Asn",
"transcript": "NM_001440357.1",
"protein_id": "NP_001427286.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 719,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Asp640Asn",
"transcript": "ENST00000684407.1",
"protein_id": "ENSP00000507775.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 719,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.1212G>A",
"hgvs_p": null,
"transcript": "ENST00000391942.6",
"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": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.2129G>A",
"hgvs_p": null,
"transcript": "ENST00000588652.5",
"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": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.2138G>A",
"hgvs_p": null,
"transcript": "ENST00000646507.1",
"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": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.2041G>A",
"hgvs_p": null,
"transcript": "ENST00000682414.1",
"protein_id": "ENSP00000507019.1",
"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": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.2070G>A",
"hgvs_p": null,
"transcript": "ENST00000682508.1",
"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": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.*1299G>A",
"hgvs_p": null,
"transcript": "ENST00000684218.1",
"protein_id": "ENSP00000507804.1",
"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": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.1597G>A",
"hgvs_p": null,
"transcript": "ENST00000684264.1",
"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": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.*527G>A",
"hgvs_p": null,
"transcript": "ENST00000684458.1",
"protein_id": "ENSP00000508260.1",
"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": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.1753G>A",
"hgvs_p": null,
"transcript": "ENST00000684468.1",
"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": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.2010G>A",
"hgvs_p": null,
"transcript": "NR_199645.1",
"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": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.2074G>A",
"hgvs_p": null,
"transcript": "NR_199646.1",
"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": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.1996G>A",
"hgvs_p": null,
"transcript": "NR_199647.1",
"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": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.*1299G>A",
"hgvs_p": null,
"transcript": "ENST00000684218.1",
"protein_id": "ENSP00000507804.1",
"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": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.*527G>A",
"hgvs_p": null,
"transcript": "ENST00000684458.1",
"protein_id": "ENSP00000508260.1",
"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": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"dbsnp": "rs121913023",
"frequency_reference_population": 0.000013630782,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000136818,
"gnomad_genomes_af": 0.0000131411,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9488121271133423,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.898,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.36,
"phylop100way_prediction": "Uncertain_significance",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000391945.10",
"gene_symbol": "ERCC2",
"hgnc_id": 3434,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Asp681Asn"
}
],
"clinvar_disease": "Cerebrooculofacioskeletal syndrome 2,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:1",
"phenotype_combined": "Cerebrooculofacioskeletal syndrome 2|not specified|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}