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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: 2-190953548-CTTTCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190953548&ref=CTTTCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190953548,
"ref": "CTTTCT",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_014905.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1651-10_1651-6delTTCTT",
"hgvs_p": null,
"transcript": "NM_014905.5",
"protein_id": "NP_055720.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "ENST00000320717.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014905.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1651-16_1651-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000320717.8",
"protein_id": "ENSP00000317379.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "NM_014905.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320717.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.2239-7896_2239-7892delAGAAA",
"hgvs_p": null,
"transcript": "ENST00000673847.1",
"protein_id": "ENSP00000501185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.2238+21277_2238+21281delAGAAA",
"hgvs_p": null,
"transcript": "ENST00000673816.1",
"protein_id": "ENSP00000501127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": null,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673816.1"
},
{
"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": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1651-16_1651-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000950145.1",
"protein_id": "ENSP00000620204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950145.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1651-10_1651-6delTTCTT",
"hgvs_p": null,
"transcript": "NM_001437282.1",
"protein_id": "NP_001424211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437282.1"
},
{
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1651-16_1651-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000412247.2",
"protein_id": "ENSP00000403329.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412247.2"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.1426-16_1426-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000950146.1",
"protein_id": "ENSP00000620205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950146.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.166-16_166-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000409428.5",
"protein_id": "ENSP00000387177.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409428.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.979-10_979-6delTTCTT",
"hgvs_p": null,
"transcript": "XM_047443957.1",
"protein_id": "XP_047299913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.577-10_577-6delTTCTT",
"hgvs_p": null,
"transcript": "XM_047443958.1",
"protein_id": "XP_047299914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443958.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "c.577-10_577-6delTTCTT",
"hgvs_p": null,
"transcript": "XM_047443960.1",
"protein_id": "XP_047299916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443960.1"
},
{
"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": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.*807-16_*807-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000417154.6",
"protein_id": "ENSP00000388990.2",
"transcript_support_level": 3,
"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": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417154.6"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.693-16_693-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000457316.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 821,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000457316.5"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"hgvs_c": "n.*1004-16_*1004-12delTTTCT",
"hgvs_p": null,
"transcript": "ENST00000706565.1",
"protein_id": "ENSP00000516450.1",
"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": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706565.1"
}
],
"gene_symbol": "GLS",
"gene_hgnc_id": 4331,
"dbsnp": "rs553636162",
"frequency_reference_population": 0.000107732005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 171,
"gnomad_exomes_af": 0.000104524,
"gnomad_genomes_af": 0.000137985,
"gnomad_exomes_ac": 150,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.658,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_014905.5",
"gene_symbol": "GLS",
"hgnc_id": 4331,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1651-10_1651-6delTTCTT",
"hgvs_p": null
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000673847.1",
"gene_symbol": "STAT1",
"hgnc_id": 11362,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2239-7896_2239-7892delAGAAA",
"hgvs_p": null
}
],
"clinvar_disease": "GLS-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "GLS-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}