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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: 5-90720953-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90720953&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"hgvs_c": "c.9642C>T",
"hgvs_p": "p.Ile3214Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_032119.4",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105379077",
"hgnc_id": null,
"hgvs_c": "n.364-5144G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -8,
"transcript": "XR_001742802.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.017000000923871994,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "I",
"aa_start": 3214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 9741,
"cds_end": null,
"cds_length": 18921,
"cds_start": 9642,
"consequences": [
"synonymous_variant"
],
"exon_count": 90,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_032119.4",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9642C>T",
"hgvs_p": "p.Ile3214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405460.9",
"protein_coding": true,
"protein_id": "NP_115495.3",
"strand": true,
"transcript": "NM_032119.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "I",
"aa_start": 3214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 9741,
"cds_end": null,
"cds_length": 18921,
"cds_start": 9642,
"consequences": [
"synonymous_variant"
],
"exon_count": 90,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000405460.9",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9642C>T",
"hgvs_p": "p.Ile3214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032119.4",
"protein_coding": true,
"protein_id": "ENSP00000384582.2",
"strand": true,
"transcript": "ENST00000405460.9",
"transcript_support_level": 1
},
{
"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": 5211,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000509621.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.2339C>T",
"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": "ENST00000509621.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6313,
"aa_ref": "I",
"aa_start": 3221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19578,
"cdna_start": 9762,
"cds_end": null,
"cds_length": 18942,
"cds_start": 9663,
"consequences": [
"synonymous_variant"
],
"exon_count": 90,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009963.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9663C>T",
"hgvs_p": "p.Ile3221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865452.1",
"strand": true,
"transcript": "XM_017009963.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6312,
"aa_ref": "I",
"aa_start": 3220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19575,
"cdna_start": 9759,
"cds_end": null,
"cds_length": 18939,
"cds_start": 9660,
"consequences": [
"synonymous_variant"
],
"exon_count": 90,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009964.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9660C>T",
"hgvs_p": "p.Ile3220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865453.1",
"strand": true,
"transcript": "XM_017009964.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6312,
"aa_ref": "I",
"aa_start": 3220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19594,
"cdna_start": 9778,
"cds_end": null,
"cds_length": 18939,
"cds_start": 9660,
"consequences": [
"synonymous_variant"
],
"exon_count": 90,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009965.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9660C>T",
"hgvs_p": "p.Ile3220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865454.1",
"strand": true,
"transcript": "XM_017009965.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6305,
"aa_ref": "I",
"aa_start": 3213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19554,
"cdna_start": 9738,
"cds_end": null,
"cds_length": 18918,
"cds_start": 9639,
"consequences": [
"synonymous_variant"
],
"exon_count": 90,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047417824.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9639C>T",
"hgvs_p": "p.Ile3213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273780.1",
"strand": true,
"transcript": "XM_047417824.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6286,
"aa_ref": "I",
"aa_start": 3194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19497,
"cdna_start": 9681,
"cds_end": null,
"cds_length": 18861,
"cds_start": 9582,
"consequences": [
"synonymous_variant"
],
"exon_count": 89,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017009966.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9582C>T",
"hgvs_p": "p.Ile3194Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865455.1",
"strand": true,
"transcript": "XM_017009966.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6281,
"aa_ref": "I",
"aa_start": 3189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19482,
"cdna_start": 9666,
"cds_end": null,
"cds_length": 18846,
"cds_start": 9567,
"consequences": [
"synonymous_variant"
],
"exon_count": 89,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017009967.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9567C>T",
"hgvs_p": "p.Ile3189Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865456.1",
"strand": true,
"transcript": "XM_017009967.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6253,
"aa_ref": "I",
"aa_start": 3221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19398,
"cdna_start": 9762,
"cds_end": null,
"cds_length": 18762,
"cds_start": 9663,
"consequences": [
"synonymous_variant"
],
"exon_count": 89,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009968.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9663C>T",
"hgvs_p": "p.Ile3221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865457.1",
"strand": true,
"transcript": "XM_017009968.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6171,
"aa_ref": "I",
"aa_start": 3221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19208,
"cdna_start": 9762,
"cds_end": null,
"cds_length": 18516,
"cds_start": 9663,
"consequences": [
"synonymous_variant"
],
"exon_count": 88,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009969.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9663C>T",
"hgvs_p": "p.Ile3221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865458.1",
"strand": true,
"transcript": "XM_017009969.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 5002,
"aa_ref": "I",
"aa_start": 3221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15211,
"cdna_start": 9762,
"cds_end": null,
"cds_length": 15009,
"cds_start": 9663,
"consequences": [
"synonymous_variant"
],
"exon_count": 74,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009970.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9663C>T",
"hgvs_p": "p.Ile3221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865459.1",
"strand": true,
"transcript": "XM_017009970.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4963,
"aa_ref": "I",
"aa_start": 3221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16023,
"cdna_start": 9762,
"cds_end": null,
"cds_length": 14892,
"cds_start": 9663,
"consequences": [
"synonymous_variant"
],
"exon_count": 73,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009971.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9663C>T",
"hgvs_p": "p.Ile3221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865460.1",
"strand": true,
"transcript": "XM_017009971.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4019,
"aa_ref": "I",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12684,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 12060,
"cds_start": 2781,
"consequences": [
"synonymous_variant"
],
"exon_count": 60,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017009972.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.2781C>T",
"hgvs_p": "p.Ile927Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865461.1",
"strand": true,
"transcript": "XM_017009972.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4012,
"aa_ref": "I",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12670,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 12039,
"cds_start": 2760,
"consequences": [
"synonymous_variant"
],
"exon_count": 60,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017009973.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.2760C>T",
"hgvs_p": "p.Ile920Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865462.1",
"strand": true,
"transcript": "XM_017009973.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3597,
"aa_ref": "I",
"aa_start": 3221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10980,
"cdna_start": 9762,
"cds_end": null,
"cds_length": 10794,
"cds_start": 9663,
"consequences": [
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017009974.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9663C>T",
"hgvs_p": "p.Ile3221Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865463.1",
"strand": true,
"transcript": "XM_017009974.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3590,
"aa_ref": "I",
"aa_start": 3214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10980,
"cdna_start": 9741,
"cds_end": null,
"cds_length": 10773,
"cds_start": 9642,
"consequences": [
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047417825.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.9642C>T",
"hgvs_p": "p.Ile3214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273781.1",
"strand": true,
"transcript": "XM_047417825.1",
"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": 5401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000640374.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.2786C>T",
"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": "ENST00000640374.1",
"transcript_support_level": 5
},
{
"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": 4505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640464.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.61C>T",
"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": "ENST00000640464.1",
"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": 4680,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000640779.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.*2668C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492527.1",
"strand": true,
"transcript": "ENST00000640779.1",
"transcript_support_level": 5
},
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{
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],
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}
]
}