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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: 7-66086763-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66086763&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66086763,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000304874.14",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*",
"transcript": "NM_000048.4",
"protein_id": "NP_000039.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 464,
"cds_start": 544,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": "ENST00000304874.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*",
"transcript": "ENST00000304874.14",
"protein_id": "ENSP00000307188.9",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 464,
"cds_start": 544,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": "NM_000048.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*",
"transcript": "ENST00000395332.8",
"protein_id": "ENSP00000378741.3",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 464,
"cds_start": 544,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*",
"transcript": "NM_001024943.2",
"protein_id": "NP_001020114.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 464,
"cds_start": 544,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*",
"transcript": "NM_001024944.2",
"protein_id": "NP_001020115.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 444,
"cds_start": 544,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*",
"transcript": "ENST00000395331.4",
"protein_id": "ENSP00000378740.3",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 444,
"cds_start": 544,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000362000.10",
"protein_id": "ENSP00000354710.6",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 399,
"cds_start": 349,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1388,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.610C>T",
"hgvs_p": null,
"transcript": "ENST00000487982.5",
"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": 1007,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.449C>T",
"hgvs_p": null,
"transcript": "ENST00000672586.1",
"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": 2172,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.714C>T",
"hgvs_p": null,
"transcript": "ENST00000672676.1",
"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": 2441,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.356C>T",
"hgvs_p": null,
"transcript": "ENST00000673149.1",
"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": 1221,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.792C>T",
"hgvs_p": null,
"transcript": "ENST00000673350.1",
"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": 3520,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.393C>T",
"hgvs_p": null,
"transcript": "ENST00000673594.1",
"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": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.524+101C>T",
"hgvs_p": null,
"transcript": "NM_001024946.2",
"protein_id": "NP_001020117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.524+101C>T",
"hgvs_p": null,
"transcript": "ENST00000380839.9",
"protein_id": "ENSP00000370219.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.524+101C>T",
"hgvs_p": null,
"transcript": "ENST00000673518.1",
"protein_id": "ENSP00000499889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.524+101C>T",
"hgvs_p": null,
"transcript": "ENST00000671817.1",
"protein_id": "ENSP00000500462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": -4,
"cds_end": null,
"cds_length": 1042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.447-966C>T",
"hgvs_p": null,
"transcript": "ENST00000672498.1",
"protein_id": "ENSP00000500227.1",
"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": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"dbsnp": "rs398123126",
"frequency_reference_population": 0.00006298949,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000647672,
"gnomad_genomes_af": 0.0000460254,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5299999713897705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.463,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000304874.14",
"gene_symbol": "ASL",
"hgnc_id": 746,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182*"
}
],
"clinvar_disease": "Argininosuccinate lyase deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9",
"phenotype_combined": "not provided|Argininosuccinate lyase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}