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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: 19-45409148-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45409148&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45409148,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000309424.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1G",
"gene_hgnc_id": 24219,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn",
"transcript": "NM_012099.3",
"protein_id": "NP_036231.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 510,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "ENST00000309424.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1G",
"gene_hgnc_id": 24219,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn",
"transcript": "ENST00000309424.8",
"protein_id": "ENSP00000310966.3",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 510,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "NM_012099.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1G",
"gene_hgnc_id": 24219,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Asp396Asn",
"transcript": "ENST00000589804.1",
"protein_id": "ENSP00000465099.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 512,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001983.4",
"protein_id": "NP_001974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "ENST00000300853.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "ENST00000300853.8",
"protein_id": "ENSP00000300853.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "NM_001983.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1G",
"gene_hgnc_id": 24219,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Asp396Asn",
"transcript": "NM_001297590.3",
"protein_id": "NP_001284519.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 512,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2828,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "n.*760C>T",
"hgvs_p": null,
"transcript": "ENST00000710953.1",
"protein_id": "ENSP00000518553.1",
"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": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369412.1",
"protein_id": "NP_001356341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369413.1",
"protein_id": "NP_001356342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369414.1",
"protein_id": "NP_001356343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369415.1",
"protein_id": "NP_001356344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369416.1",
"protein_id": "NP_001356345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001166049.2",
"protein_id": "NP_001159521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369417.1",
"protein_id": "NP_001356346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369418.1",
"protein_id": "NP_001356347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "NM_001369419.1",
"protein_id": "NP_001356348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.*527C>T",
"hgvs_p": null,
"transcript": "ENST00000423698.6",
"protein_id": "ENSP00000394875.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "n.*760C>T",
"hgvs_p": null,
"transcript": "ENST00000710953.1",
"protein_id": "ENSP00000518553.1",
"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": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLR1G",
"gene_hgnc_id": 24219,
"dbsnp": "rs2336219",
"frequency_reference_population": 0.16736071,
"hom_count_reference_population": 26540,
"allele_count_reference_population": 270078,
"gnomad_exomes_af": 0.164101,
"gnomad_genomes_af": 0.198726,
"gnomad_exomes_ac": 239888,
"gnomad_genomes_ac": 30190,
"gnomad_exomes_homalt": 23087,
"gnomad_genomes_homalt": 3453,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00022935867309570312,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0589,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.874,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000309424.8",
"gene_symbol": "POLR1G",
"hgnc_id": 24219,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000300853.8",
"gene_symbol": "ERCC1",
"hgnc_id": 3433,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*527C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}