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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: 9-1056959-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=1056959&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 1056959,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181872.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "NM_181872.6",
"protein_id": "NP_870987.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181872.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000358146.7",
"protein_id": "ENSP00000350865.2",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181872.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358146.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*769G>C",
"hgvs_p": null,
"transcript": "ENST00000382255.7",
"protein_id": "ENSP00000371690.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382255.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "NM_001387558.1",
"protein_id": "NP_001374487.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387558.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "NM_001387559.1",
"protein_id": "NP_001374488.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387559.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000382251.7",
"protein_id": "ENSP00000371686.3",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382251.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000910808.1",
"protein_id": "ENSP00000580867.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910808.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000910809.1",
"protein_id": "ENSP00000580868.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910809.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000910810.1",
"protein_id": "ENSP00000580869.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910810.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.904G>C",
"hgvs_p": "p.Glu302Gln",
"transcript": "ENST00000302441.7",
"protein_id": "ENSP00000305785.7",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 405,
"cds_start": 904,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302441.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Glu284Gln",
"transcript": "NM_001370532.1",
"protein_id": "NP_001357461.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 387,
"cds_start": 850,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370532.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Glu225Gln",
"transcript": "NM_001387560.1",
"protein_id": "NP_001374489.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 328,
"cds_start": 673,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387560.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "XM_017014214.2",
"protein_id": "XP_016869703.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 561,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014214.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*769G>C",
"hgvs_p": null,
"transcript": "NM_001130865.3",
"protein_id": "NP_001124337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130865.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*769G>C",
"hgvs_p": null,
"transcript": "NM_001370533.1",
"protein_id": "NP_001357462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*769G>C",
"hgvs_p": null,
"transcript": "NM_001387557.1",
"protein_id": "NP_001374486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387557.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*1185G>C",
"hgvs_p": null,
"transcript": "NM_006557.7",
"protein_id": "NP_006548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006557.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*1185G>C",
"hgvs_p": null,
"transcript": "ENST00000259622.10",
"protein_id": "ENSP00000259622.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259622.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "c.*735G>C",
"hgvs_p": null,
"transcript": "ENST00000635183.1",
"protein_id": "ENSP00000489226.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "n.956G>C",
"hgvs_p": null,
"transcript": "ENST00000634526.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "n.852G>C",
"hgvs_p": null,
"transcript": "ENST00000634824.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634824.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"hgvs_c": "n.1705G>C",
"hgvs_p": null,
"transcript": "NR_163472.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163472.1"
}
],
"gene_symbol": "DMRT2",
"gene_hgnc_id": 2935,
"dbsnp": "rs17641078",
"frequency_reference_population": 0.122826174,
"hom_count_reference_population": 13569,
"allele_count_reference_population": 198238,
"gnomad_exomes_af": 0.124185,
"gnomad_genomes_af": 0.109768,
"gnomad_exomes_ac": 181543,
"gnomad_genomes_ac": 16695,
"gnomad_exomes_homalt": 12453,
"gnomad_genomes_homalt": 1116,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014864802360534668,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.2078,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.272,
"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": -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": "NM_181872.6",
"gene_symbol": "DMRT2",
"hgnc_id": 2935,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}