← 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: 13-32370512-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32370512&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32370512,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000530893.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "NM_000059.4",
"protein_id": "NP_000050.3",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3418,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 8641,
"cdna_end": null,
"cdna_length": 11954,
"mane_select": "ENST00000380152.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "ENST00000380152.8",
"protein_id": "ENSP00000369497.3",
"transcript_support_level": 5,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3418,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 8641,
"cdna_end": null,
"cdna_length": 11954,
"mane_select": "NM_000059.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "ENST00000544455.6",
"protein_id": "ENSP00000439902.1",
"transcript_support_level": 1,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3418,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 8541,
"cdna_end": null,
"cdna_length": 11854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8073T>G",
"hgvs_p": "p.Asn2691Lys",
"transcript": "ENST00000530893.7",
"protein_id": "ENSP00000499438.2",
"transcript_support_level": 1,
"aa_start": 2691,
"aa_end": null,
"aa_length": 3295,
"cds_start": 8073,
"cds_end": null,
"cds_length": 9888,
"cdna_start": 8640,
"cdna_end": null,
"cdna_length": 11953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*500T>G",
"hgvs_p": null,
"transcript": "ENST00000614259.2",
"protein_id": "ENSP00000506251.1",
"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": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*500T>G",
"hgvs_p": null,
"transcript": "ENST00000614259.2",
"protein_id": "ENSP00000506251.1",
"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": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "NM_001432077.1",
"protein_id": "NP_001419006.1",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3418,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 8550,
"cdna_end": null,
"cdna_length": 11863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "ENST00000680887.1",
"protein_id": "ENSP00000505508.1",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3418,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 8567,
"cdna_end": null,
"cdna_length": 11880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "NM_001406720.1",
"protein_id": "NP_001393649.1",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3401,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10206,
"cdna_start": 8641,
"cdna_end": null,
"cdna_length": 11903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "ENST00000700202.2",
"protein_id": "ENSP00000514856.2",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3401,
"cds_start": 8442,
"cds_end": null,
"cds_length": 10206,
"cdna_start": 8641,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8346T>G",
"hgvs_p": "p.Asn2782Lys",
"transcript": "NM_001406719.1",
"protein_id": "NP_001393648.1",
"transcript_support_level": null,
"aa_start": 2782,
"aa_end": null,
"aa_length": 3386,
"cds_start": 8346,
"cds_end": null,
"cds_length": 10161,
"cdna_start": 8545,
"cdna_end": null,
"cdna_length": 11858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8442T>G",
"hgvs_p": "p.Asn2814Lys",
"transcript": "ENST00000713678.1",
"protein_id": "ENSP00000518981.1",
"transcript_support_level": null,
"aa_start": 2814,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8442,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 8653,
"cdna_end": null,
"cdna_length": 11900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.3510T>G",
"hgvs_p": "p.Asn1170Lys",
"transcript": "NM_001406721.1",
"protein_id": "NP_001393650.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1774,
"cds_start": 3510,
"cds_end": null,
"cds_length": 5325,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.2025T>G",
"hgvs_p": "p.Asn675Lys",
"transcript": "NM_001406722.1",
"protein_id": "NP_001393651.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2025,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 5800,
"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": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.8442T>G",
"hgvs_p": null,
"transcript": "ENST00000470094.2",
"protein_id": "ENSP00000434898.2",
"transcript_support_level": 5,
"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": 12077,
"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": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.8442T>G",
"hgvs_p": null,
"transcript": "ENST00000528762.2",
"protein_id": "ENSP00000433168.2",
"transcript_support_level": 4,
"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": 10668,
"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": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.8442T>G",
"hgvs_p": null,
"transcript": "ENST00000665585.2",
"protein_id": "ENSP00000499570.2",
"transcript_support_level": null,
"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": 10917,
"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": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.8442T>G",
"hgvs_p": null,
"transcript": "ENST00000666593.2",
"protein_id": "ENSP00000499256.2",
"transcript_support_level": null,
"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": 9839,
"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": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*8081T>G",
"hgvs_p": null,
"transcript": "ENST00000713677.1",
"protein_id": "ENSP00000518980.1",
"transcript_support_level": null,
"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": 11958,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.7916T>G",
"hgvs_p": null,
"transcript": "ENST00000713679.1",
"protein_id": "ENSP00000518982.1",
"transcript_support_level": null,
"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": 11428,
"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": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.8641T>G",
"hgvs_p": null,
"transcript": "NR_176251.1",
"protein_id": null,
"transcript_support_level": null,
"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": 12018,
"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": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*8081T>G",
"hgvs_p": null,
"transcript": "ENST00000713677.1",
"protein_id": "ENSP00000518980.1",
"transcript_support_level": null,
"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": 11958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8332-444T>G",
"hgvs_p": null,
"transcript": "ENST00000713680.1",
"protein_id": "ENSP00000518983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3366,
"cds_start": -4,
"cds_end": null,
"cds_length": 10101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"dbsnp": "rs1131692106",
"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": 0.1526317298412323,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7300000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.2384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.91,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.73,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530893.7",
"gene_symbol": "BRCA2",
"hgnc_id": 1101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.8073T>G",
"hgvs_p": "p.Asn2691Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}