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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: 4-73418166-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73418166&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73418166,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000295897.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1507G>T",
"hgvs_p": "p.Glu503*",
"transcript": "NM_000477.7",
"protein_id": "NP_000468.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 609,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": "ENST00000295897.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1507G>T",
"hgvs_p": "p.Glu503*",
"transcript": "ENST00000295897.9",
"protein_id": "ENSP00000295897.4",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 609,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": "NM_000477.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.931G>T",
"hgvs_p": "p.Glu311*",
"transcript": "ENST00000415165.6",
"protein_id": "ENSP00000401820.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 417,
"cds_start": 931,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1507G>T",
"hgvs_p": "p.Glu503*",
"transcript": "ENST00000509063.5",
"protein_id": "ENSP00000422784.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 604,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1162G>T",
"hgvs_p": "p.Glu388*",
"transcript": "ENST00000401494.7",
"protein_id": "ENSP00000384695.3",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 494,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1057G>T",
"hgvs_p": "p.Glu353*",
"transcript": "ENST00000503124.5",
"protein_id": "ENSP00000421027.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 459,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"transcript": "ENST00000511370.1",
"protein_id": "ENSP00000426179.1",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 453,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1519,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.*786G>T",
"hgvs_p": null,
"transcript": "ENST00000476441.6",
"protein_id": "ENSP00000423727.1",
"transcript_support_level": 5,
"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": 1604,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.161G>T",
"hgvs_p": null,
"transcript": "ENST00000486939.1",
"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": 345,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.1054G>T",
"hgvs_p": null,
"transcript": "ENST00000505649.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1509,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "n.*786G>T",
"hgvs_p": null,
"transcript": "ENST00000476441.6",
"protein_id": "ENSP00000423727.1",
"transcript_support_level": 5,
"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": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"dbsnp": "rs80259813",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2460000067949295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.511,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000295897.9",
"gene_symbol": "ALB",
"hgnc_id": 399,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1507G>T",
"hgvs_p": "p.Glu503*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}