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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: 9-37429817-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37429817&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37429817,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000318158.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.579A>T",
"hgvs_p": "p.Ala193Ala",
"transcript": "NM_012203.2",
"protein_id": "NP_036335.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 328,
"cds_start": 579,
"cds_end": null,
"cds_length": 987,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": "ENST00000318158.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.579A>T",
"hgvs_p": "p.Ala193Ala",
"transcript": "ENST00000318158.11",
"protein_id": "ENSP00000313432.6",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 328,
"cds_start": 579,
"cds_end": null,
"cds_length": 987,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": "NM_012203.2",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.606A>T",
"hgvs_p": null,
"transcript": "ENST00000460882.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.579A>T",
"hgvs_p": "p.Ala193Ala",
"transcript": "ENST00000607784.1",
"protein_id": "ENSP00000475569.1",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 358,
"cds_start": 579,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.852A>T",
"hgvs_p": "p.Ala284Ala",
"transcript": "XM_024447716.2",
"protein_id": "XP_024303484.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 429,
"cds_start": 852,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.579A>T",
"hgvs_p": "p.Ala193Ala",
"transcript": "XM_017015320.3",
"protein_id": "XP_016870809.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 338,
"cds_start": 579,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.579A>T",
"hgvs_p": "p.Ala193Ala",
"transcript": "XM_017015321.3",
"protein_id": "XP_016870810.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 309,
"cds_start": 579,
"cds_end": null,
"cds_length": 930,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.258A>T",
"hgvs_p": "p.Ala86Ala",
"transcript": "XM_047424084.1",
"protein_id": "XP_047280040.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 231,
"cds_start": 258,
"cds_end": null,
"cds_length": 696,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.258A>T",
"hgvs_p": "p.Ala86Ala",
"transcript": "XM_005251631.2",
"protein_id": "XP_005251688.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 221,
"cds_start": 258,
"cds_end": null,
"cds_length": 666,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.177A>T",
"hgvs_p": "p.Ala59Ala",
"transcript": "XM_017015323.3",
"protein_id": "XP_016870812.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 204,
"cds_start": 177,
"cds_end": null,
"cds_length": 615,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.177A>T",
"hgvs_p": "p.Ala59Ala",
"transcript": "XM_047424085.1",
"protein_id": "XP_047280041.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 194,
"cds_start": 177,
"cds_end": null,
"cds_length": 585,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1151,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.616A>T",
"hgvs_p": null,
"transcript": "ENST00000377824.8",
"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": 1844,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.1280A>T",
"hgvs_p": null,
"transcript": "ENST00000480596.5",
"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": 1893,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.32A>T",
"hgvs_p": null,
"transcript": "ENST00000482603.1",
"protein_id": null,
"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": 597,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.284A>T",
"hgvs_p": null,
"transcript": "ENST00000491488.5",
"protein_id": null,
"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": 602,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.150A>T",
"hgvs_p": null,
"transcript": "ENST00000494290.1",
"protein_id": "ENSP00000432021.1",
"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": 1593,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.2112A>T",
"hgvs_p": null,
"transcript": "ENST00000497693.1",
"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": 4762,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.867A>T",
"hgvs_p": null,
"transcript": "XR_002956828.2",
"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": 1427,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.634A>T",
"hgvs_p": null,
"transcript": "XR_007061375.1",
"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": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"dbsnp": "rs309458",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.316,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000318158.11",
"gene_symbol": "GRHPR",
"hgnc_id": 4570,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.579A>T",
"hgvs_p": "p.Ala193Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}