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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: 6-75634715-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75634715&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75634715,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000447266.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "NM_015571.4",
"protein_id": "NP_056386.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1112,
"cds_start": 362,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": "ENST00000447266.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "ENST00000447266.7",
"protein_id": "ENSP00000402527.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1112,
"cds_start": 362,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": "NM_015571.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "ENST00000370010.6",
"protein_id": "ENSP00000359027.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1105,
"cds_start": 362,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "NM_001100409.3",
"protein_id": "NP_001093879.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1105,
"cds_start": 362,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "NM_001304792.2",
"protein_id": "NP_001291721.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 685,
"cds_start": 362,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "ENST00000327284.12",
"protein_id": "ENSP00000321820.8",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 685,
"cds_start": 362,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Thr11Met",
"transcript": "ENST00000424947.6",
"protein_id": "ENSP00000391426.2",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 582,
"cds_start": 32,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 32,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Thr12Met",
"transcript": "ENST00000483859.6",
"protein_id": "ENSP00000426480.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 219,
"cds_start": 35,
"cds_end": null,
"cds_length": 660,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1013,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "ENST00000487548.2",
"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": 427,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "n.*245C>T",
"hgvs_p": null,
"transcript": "ENST00000493959.6",
"protein_id": "ENSP00000425624.1",
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"hgvs_c": "n.*245C>T",
"hgvs_p": null,
"transcript": "ENST00000493959.6",
"protein_id": "ENSP00000425624.1",
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SENP6",
"gene_hgnc_id": 20944,
"dbsnp": "rs17414086",
"frequency_reference_population": 0.32491967,
"hom_count_reference_population": 89828,
"allele_count_reference_population": 505794,
"gnomad_exomes_af": 0.333651,
"gnomad_genomes_af": 0.24422,
"gnomad_exomes_ac": 468676,
"gnomad_genomes_ac": 37118,
"gnomad_exomes_homalt": 83925,
"gnomad_genomes_homalt": 5903,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005008906126022339,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.143,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000447266.7",
"gene_symbol": "SENP6",
"hgnc_id": 20944,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}