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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: 13-32397012-C-CAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32397012&ref=C&alt=CAAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "BRCA2",
"hgnc_id": 1101,
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_000059.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_score": 1,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 2, familial, susceptibility to,Breast-ovarian cancer,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "I",
"aa_start": 3207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11954,
"cdna_start": 9819,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9620,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000059.4",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380152.8",
"protein_coding": true,
"protein_id": "NP_000050.3",
"strand": true,
"transcript": "NM_000059.4",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "I",
"aa_start": 3207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11954,
"cdna_start": 9819,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9620,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000380152.8",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000059.4",
"protein_coding": true,
"protein_id": "ENSP00000369497.3",
"strand": true,
"transcript": "ENST00000380152.8",
"transcript_support_level": 5
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "I",
"aa_start": 3207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11854,
"cdna_start": 9719,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9620,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000544455.6",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439902.1",
"strand": true,
"transcript": "ENST00000544455.6",
"transcript_support_level": 1
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3295,
"aa_ref": "I",
"aa_start": 3084,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11953,
"cdna_start": 9818,
"cds_end": null,
"cds_length": 9888,
"cds_start": 9251,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000530893.7",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9248_9250dupAAA",
"hgvs_p": "p.Gln3083_Ile3084insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499438.2",
"strand": true,
"transcript": "ENST00000530893.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 11763,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000614259.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*1675_*1677dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506251.1",
"strand": true,
"transcript": "ENST00000614259.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 11763,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000614259.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*1675_*1677dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506251.1",
"strand": true,
"transcript": "ENST00000614259.2",
"transcript_support_level": 2
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "I",
"aa_start": 3207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11863,
"cdna_start": 9728,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9620,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001432077.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001419006.1",
"strand": true,
"transcript": "NM_001432077.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "I",
"aa_start": 3207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11880,
"cdna_start": 9745,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9620,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000680887.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505508.1",
"strand": true,
"transcript": "ENST00000680887.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3401,
"aa_ref": "I",
"aa_start": 3190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11903,
"cdna_start": 9768,
"cds_end": null,
"cds_length": 10206,
"cds_start": 9569,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001406720.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9566_9568dupAAA",
"hgvs_p": "p.Gln3189_Ile3190insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393649.1",
"strand": true,
"transcript": "NM_001406720.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3401,
"aa_ref": "I",
"aa_start": 3190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10553,
"cdna_start": 9768,
"cds_end": null,
"cds_length": 10206,
"cds_start": 9569,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000700202.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9566_9568dupAAA",
"hgvs_p": "p.Gln3189_Ile3190insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514856.2",
"strand": true,
"transcript": "ENST00000700202.2",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3386,
"aa_ref": "I",
"aa_start": 3175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11858,
"cdna_start": 9723,
"cds_end": null,
"cds_length": 10161,
"cds_start": 9524,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001406719.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9521_9523dupAAA",
"hgvs_p": "p.Gln3174_Ile3175insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393648.1",
"strand": true,
"transcript": "NM_001406719.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3366,
"aa_ref": "I",
"aa_start": 3155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11798,
"cdna_start": 9663,
"cds_end": null,
"cds_length": 10101,
"cds_start": 9464,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000713680.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9461_9463dupAAA",
"hgvs_p": "p.Gln3154_Ile3155insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518983.1",
"strand": true,
"transcript": "ENST00000713680.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 3232,
"aa_ref": "I",
"aa_start": 3207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11900,
"cdna_start": 9831,
"cds_end": null,
"cds_length": 9699,
"cds_start": 9620,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000713678.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9617_9619dupAAA",
"hgvs_p": "p.Gln3206_Ile3207insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518981.1",
"strand": true,
"transcript": "ENST00000713678.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 1774,
"aa_ref": "I",
"aa_start": 1563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": 4887,
"cds_end": null,
"cds_length": 5325,
"cds_start": 4688,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001406721.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.4685_4687dupAAA",
"hgvs_p": "p.Gln1562_Ile1563insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393650.1",
"strand": true,
"transcript": "NM_001406721.1",
"transcript_support_level": null
},
{
"aa_alt": "KI",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "I",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3203,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001406722.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.3200_3202dupAAA",
"hgvs_p": "p.Gln1067_Ile1068insLys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393651.1",
"strand": true,
"transcript": "NM_001406722.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 12077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000470094.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*140_*142dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434898.2",
"strand": true,
"transcript": "ENST00000470094.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000528762.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*984_*986dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433168.2",
"strand": true,
"transcript": "ENST00000528762.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000533776.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.205_207dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000533776.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000665585.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*1179_*1181dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499570.2",
"strand": true,
"transcript": "ENST00000665585.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000700203.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.1744_1746dupAAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000700203.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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