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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: 5-34908772-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34908772&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34908772,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002853.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "NM_002853.4",
"protein_id": "NP_002844.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "ENST00000382038.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002853.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000382038.7",
"protein_id": "ENSP00000371469.2",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "NM_002853.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382038.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "n.*526A>G",
"hgvs_p": null,
"transcript": "ENST00000325577.8",
"protein_id": "ENSP00000313467.4",
"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": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000325577.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "n.*526A>G",
"hgvs_p": null,
"transcript": "ENST00000325577.8",
"protein_id": "ENSP00000313467.4",
"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": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000325577.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000341754.8",
"protein_id": "ENSP00000340879.4",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341754.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000886887.1",
"protein_id": "ENSP00000556946.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 3163,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886887.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000938495.1",
"protein_id": "ENSP00000608554.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938495.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000938497.1",
"protein_id": "ENSP00000608556.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938497.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000956463.1",
"protein_id": "ENSP00000626522.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956463.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly",
"transcript": "ENST00000956464.1",
"protein_id": "ENSP00000626523.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 282,
"cds_start": 842,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956464.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Glu270Gly",
"transcript": "ENST00000886888.1",
"protein_id": "ENSP00000556947.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 271,
"cds_start": 809,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886888.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Glu226Gly",
"transcript": "ENST00000938496.1",
"protein_id": "ENSP00000608555.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 227,
"cds_start": 677,
"cds_end": null,
"cds_length": 684,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938496.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "n.*687A>G",
"hgvs_p": null,
"transcript": "ENST00000513914.5",
"protein_id": "ENSP00000421007.1",
"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": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513914.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "n.891A>G",
"hgvs_p": null,
"transcript": "NR_026591.2",
"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": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026591.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"hgvs_c": "n.*687A>G",
"hgvs_p": null,
"transcript": "ENST00000513914.5",
"protein_id": "ENSP00000421007.1",
"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": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513914.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.974-9592T>C",
"hgvs_p": null,
"transcript": "NR_169875.1",
"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": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.1048-9592T>C",
"hgvs_p": null,
"transcript": "NR_169876.1",
"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": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169876.1"
}
],
"gene_symbol": "RAD1",
"gene_hgnc_id": 9806,
"dbsnp": "rs1805327",
"frequency_reference_population": 0.07114398,
"hom_count_reference_population": 4655,
"allele_count_reference_population": 113849,
"gnomad_exomes_af": 0.0729367,
"gnomad_genomes_af": 0.0540945,
"gnomad_exomes_ac": 105613,
"gnomad_genomes_ac": 8236,
"gnomad_exomes_homalt": 4342,
"gnomad_genomes_homalt": 313,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016051530838012695,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.0996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.972,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002853.4",
"gene_symbol": "RAD1",
"hgnc_id": 9806,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Glu281Gly"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_169875.1",
"gene_symbol": "TTC23L",
"hgnc_id": 26355,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.974-9592T>C",
"hgvs_p": null
}
],
"clinvar_disease": "RAD1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RAD1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}