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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: 3-101328523-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101328523&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101328523,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020654.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2819C>T",
"hgvs_p": "p.Ser940Phe",
"transcript": "NM_020654.5",
"protein_id": "NP_065705.3",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2819,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "ENST00000394095.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2819C>T",
"hgvs_p": "p.Ser940Phe",
"transcript": "ENST00000394095.7",
"protein_id": "ENSP00000377655.2",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2819,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "NM_020654.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2720C>T",
"hgvs_p": "p.Ser907Phe",
"transcript": "ENST00000348610.3",
"protein_id": "ENSP00000342159.3",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2624C>T",
"hgvs_p": "p.Ser875Phe",
"transcript": "ENST00000394094.6",
"protein_id": "ENSP00000377654.2",
"transcript_support_level": 1,
"aa_start": 875,
"aa_end": null,
"aa_length": 985,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Ser874Phe",
"transcript": "ENST00000314261.11",
"protein_id": "ENSP00000313624.7",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 984,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "ENST00000394091.5",
"protein_id": "ENSP00000377651.1",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 886,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Phe",
"transcript": "ENST00000394085.7",
"protein_id": "ENSP00000377647.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 238,
"cds_start": 383,
"cds_end": null,
"cds_length": 717,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2720C>T",
"hgvs_p": "p.Ser907Phe",
"transcript": "NM_001282802.2",
"protein_id": "NP_001269731.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2720,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2624C>T",
"hgvs_p": "p.Ser875Phe",
"transcript": "NM_001077203.3",
"protein_id": "NP_001070671.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 985,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Ser874Phe",
"transcript": "NM_001282801.2",
"protein_id": "NP_001269730.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 984,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "NM_001282803.2",
"protein_id": "NP_001269732.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 886,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2822C>T",
"hgvs_p": "p.Ser941Phe",
"transcript": "XM_011513038.4",
"protein_id": "XP_011511340.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2627C>T",
"hgvs_p": "p.Ser876Phe",
"transcript": "XM_011513040.4",
"protein_id": "XP_011511342.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 986,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2624C>T",
"hgvs_p": "p.Ser875Phe",
"transcript": "XM_011513041.4",
"protein_id": "XP_011511343.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 985,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2525C>T",
"hgvs_p": "p.Ser842Phe",
"transcript": "XM_017006926.2",
"protein_id": "XP_016862415.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 952,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2656,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2429C>T",
"hgvs_p": "p.Ser810Phe",
"transcript": "XM_011513042.4",
"protein_id": "XP_011511344.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 920,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2426C>T",
"hgvs_p": "p.Ser809Phe",
"transcript": "XM_005247662.6",
"protein_id": "XP_005247719.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 919,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2330C>T",
"hgvs_p": "p.Ser777Phe",
"transcript": "XM_047448627.1",
"protein_id": "XP_047304583.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 887,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"dbsnp": "rs2058963500",
"frequency_reference_population": 0.000006576784,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657678,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9728515148162842,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.811,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.039,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_020654.5",
"gene_symbol": "SENP7",
"hgnc_id": 30402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2819C>T",
"hgvs_p": "p.Ser940Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}