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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: 11-67490119-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67490119&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67490119,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000279146.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*",
"transcript": "NM_003977.4",
"protein_id": "NP_003968.3",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 330,
"cds_start": 550,
"cds_end": null,
"cds_length": 993,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": "ENST00000279146.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*",
"transcript": "ENST00000279146.8",
"protein_id": "ENSP00000279146.3",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 330,
"cds_start": 550,
"cds_end": null,
"cds_length": 993,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": "NM_003977.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*",
"transcript": "ENST00000682699.1",
"protein_id": "ENSP00000507935.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 314,
"cds_start": 550,
"cds_end": null,
"cds_length": 946,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Gln176*",
"transcript": "ENST00000525341.2",
"protein_id": "ENSP00000476993.2",
"transcript_support_level": 2,
"aa_start": 176,
"aa_end": null,
"aa_length": 296,
"cds_start": 526,
"cds_end": null,
"cds_length": 891,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*",
"transcript": "NM_001302960.2",
"protein_id": "NP_001289889.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 283,
"cds_start": 550,
"cds_end": null,
"cds_length": 852,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*",
"transcript": "ENST00000683237.1",
"protein_id": "ENSP00000507343.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 283,
"cds_start": 550,
"cds_end": null,
"cds_length": 852,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*",
"transcript": "ENST00000684006.1",
"protein_id": "ENSP00000507269.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 282,
"cds_start": 550,
"cds_end": null,
"cds_length": 849,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Gln125*",
"transcript": "NM_001302959.2",
"protein_id": "NP_001289888.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 271,
"cds_start": 373,
"cds_end": null,
"cds_length": 816,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Gln125*",
"transcript": "ENST00000683856.1",
"protein_id": "ENSP00000507979.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 271,
"cds_start": 373,
"cds_end": null,
"cds_length": 816,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Gln124*",
"transcript": "ENST00000684657.1",
"protein_id": "ENSP00000507961.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 270,
"cds_start": 370,
"cds_end": null,
"cds_length": 813,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Gln121*",
"transcript": "ENST00000528641.7",
"protein_id": "ENSP00000434982.3",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 267,
"cds_start": 361,
"cds_end": null,
"cds_length": 804,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Gln61*",
"transcript": "ENST00000682659.1",
"protein_id": "ENSP00000507351.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 207,
"cds_start": 181,
"cds_end": null,
"cds_length": 624,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 721,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "n.1062C>T",
"hgvs_p": null,
"transcript": "ENST00000529797.2",
"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": 1919,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.468+664C>T",
"hgvs_p": null,
"transcript": "ENST00000682324.1",
"protein_id": "ENSP00000508017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6752",
"gene_hgnc_id": 50020,
"hgvs_c": "n.-126C>T",
"hgvs_p": null,
"transcript": "ENST00000618442.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 71,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6752",
"gene_hgnc_id": 50020,
"hgvs_c": "n.-126C>T",
"hgvs_p": null,
"transcript": "NR_106810.1",
"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": 71,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6752",
"gene_hgnc_id": 50020,
"hgvs_c": "n.-131C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_1915",
"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": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6752",
"gene_hgnc_id": 50020,
"hgvs_c": "n.-176C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_1916",
"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": 21,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"dbsnp": "rs267606560",
"frequency_reference_population": 6.845011e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84501e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.305,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000279146.8",
"gene_symbol": "AIP",
"hgnc_id": 358,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Gln184*"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_106810.1",
"gene_symbol": "MIR6752",
"hgnc_id": 50020,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-126C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Somatotroph adenoma,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Somatotroph adenoma|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}