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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: 20-23365248-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=23365248&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 23365248,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000338121.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "NM_022482.5",
"protein_id": "NP_071927.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": "ENST00000338121.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "ENST00000338121.10",
"protein_id": "ENSP00000338290.5",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": "NM_022482.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "ENST00000377051.2",
"protein_id": "ENSP00000366250.2",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 4740,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "NM_001317012.2",
"protein_id": "NP_001303941.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4931,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "NM_001317019.1",
"protein_id": "NP_001303948.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 677,
"cds_start": 865,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 4732,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_011529321.4",
"protein_id": "XP_011527623.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5310,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_011529322.3",
"protein_id": "XP_011527624.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 4807,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_024451968.2",
"protein_id": "XP_024307736.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 5764,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_024451969.2",
"protein_id": "XP_024307737.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 711,
"cds_start": 865,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 5544,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_005260800.4",
"protein_id": "XP_005260857.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 677,
"cds_start": 865,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 4788,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_017028017.3",
"protein_id": "XP_016883506.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 677,
"cds_start": 865,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 5498,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_017028018.3",
"protein_id": "XP_016883507.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 677,
"cds_start": 865,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 4761,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_047440375.1",
"protein_id": "XP_047296331.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 677,
"cds_start": 865,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 5718,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_047440376.1",
"protein_id": "XP_047296332.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 677,
"cds_start": 865,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 5268,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_005260802.5",
"protein_id": "XP_005260859.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 545,
"cds_start": 865,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 4676,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_017028019.3",
"protein_id": "XP_016883508.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 545,
"cds_start": 865,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 4649,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_047440377.1",
"protein_id": "XP_047296333.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 545,
"cds_start": 865,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 4717,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "XM_047440378.1",
"protein_id": "XP_047296334.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 455,
"cds_start": 865,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1609,
"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": "GZF1",
"gene_hgnc_id": 15808,
"hgvs_c": "n.30G>T",
"hgvs_p": null,
"transcript": "ENST00000461789.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GZF1",
"gene_hgnc_id": 15808,
"dbsnp": "rs1555786618",
"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": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.035,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000338121.10",
"gene_symbol": "GZF1",
"hgnc_id": 15808,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*"
}
],
"clinvar_disease": " and myopia, short stature,Joint laxity",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Joint laxity, short stature, and myopia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}