← Back to variant description
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: 3-101325991-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101325991&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101325991,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394095.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.3105G>T",
"hgvs_p": "p.Glu1035Asp",
"transcript": "NM_020654.5",
"protein_id": "NP_065705.3",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "ENST00000394095.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.3105G>T",
"hgvs_p": "p.Glu1035Asp",
"transcript": "ENST00000394095.7",
"protein_id": "ENSP00000377655.2",
"transcript_support_level": 1,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "NM_020654.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.3006G>T",
"hgvs_p": "p.Glu1002Asp",
"transcript": "ENST00000348610.3",
"protein_id": "ENSP00000342159.3",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"transcript": "ENST00000394094.6",
"protein_id": "ENSP00000377654.2",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 985,
"cds_start": 2910,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2907G>T",
"hgvs_p": "p.Glu969Asp",
"transcript": "ENST00000314261.11",
"protein_id": "ENSP00000313624.7",
"transcript_support_level": 1,
"aa_start": 969,
"aa_end": null,
"aa_length": 984,
"cds_start": 2907,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2613G>T",
"hgvs_p": "p.Glu871Asp",
"transcript": "ENST00000394091.5",
"protein_id": "ENSP00000377651.1",
"transcript_support_level": 1,
"aa_start": 871,
"aa_end": null,
"aa_length": 886,
"cds_start": 2613,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.669G>T",
"hgvs_p": "p.Glu223Asp",
"transcript": "ENST00000394085.7",
"protein_id": "ENSP00000377647.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 238,
"cds_start": 669,
"cds_end": null,
"cds_length": 717,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.3006G>T",
"hgvs_p": "p.Glu1002Asp",
"transcript": "NM_001282802.2",
"protein_id": "NP_001269731.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1017,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"transcript": "NM_001077203.3",
"protein_id": "NP_001070671.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 985,
"cds_start": 2910,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2907G>T",
"hgvs_p": "p.Glu969Asp",
"transcript": "NM_001282801.2",
"protein_id": "NP_001269730.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 984,
"cds_start": 2907,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2989,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2613G>T",
"hgvs_p": "p.Glu871Asp",
"transcript": "NM_001282803.2",
"protein_id": "NP_001269732.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 886,
"cds_start": 2613,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2744,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.3108G>T",
"hgvs_p": "p.Glu1036Asp",
"transcript": "XM_011513038.4",
"protein_id": "XP_011511340.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2913G>T",
"hgvs_p": "p.Glu971Asp",
"transcript": "XM_011513040.4",
"protein_id": "XP_011511342.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2913,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"transcript": "XM_011513041.4",
"protein_id": "XP_011511343.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 985,
"cds_start": 2910,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2811G>T",
"hgvs_p": "p.Glu937Asp",
"transcript": "XM_017006926.2",
"protein_id": "XP_016862415.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 952,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2715G>T",
"hgvs_p": "p.Glu905Asp",
"transcript": "XM_011513042.4",
"protein_id": "XP_011511344.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 920,
"cds_start": 2715,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2797,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2712G>T",
"hgvs_p": "p.Glu904Asp",
"transcript": "XM_005247662.6",
"protein_id": "XP_005247719.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 919,
"cds_start": 2712,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"hgvs_c": "c.2616G>T",
"hgvs_p": "p.Glu872Asp",
"transcript": "XM_047448627.1",
"protein_id": "XP_047304583.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 887,
"cds_start": 2616,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SENP7",
"gene_hgnc_id": 30402,
"dbsnp": "rs201515137",
"frequency_reference_population": 0.00022161442,
"hom_count_reference_population": 0,
"allele_count_reference_population": 357,
"gnomad_exomes_af": 0.000236482,
"gnomad_genomes_af": 0.0000789359,
"gnomad_exomes_ac": 345,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10228565335273743,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.2077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.278,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394095.7",
"gene_symbol": "SENP7",
"hgnc_id": 30402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3105G>T",
"hgvs_p": "p.Glu1035Asp"
}
],
"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
}