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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: 5-90708900-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90708900&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"hgvs_c": "c.8815C>T",
"hgvs_p": "p.Pro2939Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_032119.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 412,
"alphamissense_prediction": null,
"alphamissense_score": 0.8158,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "ADGRV1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008366107940673828,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "P",
"aa_start": 2939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 8914,
"cds_end": null,
"cds_length": 18921,
"cds_start": 8815,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_032119.4",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8815C>T",
"hgvs_p": "p.Pro2939Ser",
"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": "S",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "P",
"aa_start": 2939,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 8914,
"cds_end": null,
"cds_length": 18921,
"cds_start": 8815,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000405460.9",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8815C>T",
"hgvs_p": "p.Pro2939Ser",
"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": 7,
"exon_rank_end": null,
"feature": "ENST00000509621.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.1512C>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": "S",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "P",
"aa_start": 2036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6723,
"cdna_start": 6714,
"cds_end": null,
"cds_length": 6115,
"cds_start": 6106,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000640403.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.6106C>T",
"hgvs_p": "p.Pro2036Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492531.1",
"strand": true,
"transcript": "ENST00000640403.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 6313,
"aa_ref": "P",
"aa_start": 2946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19578,
"cdna_start": 8935,
"cds_end": null,
"cds_length": 18942,
"cds_start": 8836,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009963.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8836C>T",
"hgvs_p": "p.Pro2946Ser",
"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": "S",
"aa_end": null,
"aa_length": 6312,
"aa_ref": "P",
"aa_start": 2945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19575,
"cdna_start": 8932,
"cds_end": null,
"cds_length": 18939,
"cds_start": 8833,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009964.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8833C>T",
"hgvs_p": "p.Pro2945Ser",
"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": "S",
"aa_end": null,
"aa_length": 6312,
"aa_ref": "P",
"aa_start": 2945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19594,
"cdna_start": 8951,
"cds_end": null,
"cds_length": 18939,
"cds_start": 8833,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009965.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8833C>T",
"hgvs_p": "p.Pro2945Ser",
"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": "S",
"aa_end": null,
"aa_length": 6305,
"aa_ref": "P",
"aa_start": 2938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19554,
"cdna_start": 8911,
"cds_end": null,
"cds_length": 18918,
"cds_start": 8812,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_047417824.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8812C>T",
"hgvs_p": "p.Pro2938Ser",
"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": "S",
"aa_end": null,
"aa_length": 6286,
"aa_ref": "P",
"aa_start": 2919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19497,
"cdna_start": 8854,
"cds_end": null,
"cds_length": 18861,
"cds_start": 8755,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_017009966.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8755C>T",
"hgvs_p": "p.Pro2919Ser",
"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": "S",
"aa_end": null,
"aa_length": 6281,
"aa_ref": "P",
"aa_start": 2914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19482,
"cdna_start": 8839,
"cds_end": null,
"cds_length": 18846,
"cds_start": 8740,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_017009967.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8740C>T",
"hgvs_p": "p.Pro2914Ser",
"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": "S",
"aa_end": null,
"aa_length": 6253,
"aa_ref": "P",
"aa_start": 2946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19398,
"cdna_start": 8935,
"cds_end": null,
"cds_length": 18762,
"cds_start": 8836,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009968.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8836C>T",
"hgvs_p": "p.Pro2946Ser",
"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": "S",
"aa_end": null,
"aa_length": 6171,
"aa_ref": "P",
"aa_start": 2946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19208,
"cdna_start": 8935,
"cds_end": null,
"cds_length": 18516,
"cds_start": 8836,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009969.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8836C>T",
"hgvs_p": "p.Pro2946Ser",
"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
},
{
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"aa_length": 5002,
"aa_ref": "P",
"aa_start": 2946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15211,
"cdna_start": 8935,
"cds_end": null,
"cds_length": 15009,
"cds_start": 8836,
"consequences": [
"missense_variant"
],
"exon_count": 74,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009970.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8836C>T",
"hgvs_p": "p.Pro2946Ser",
"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": "S",
"aa_end": null,
"aa_length": 4963,
"aa_ref": "P",
"aa_start": 2946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16023,
"cdna_start": 8935,
"cds_end": null,
"cds_length": 14892,
"cds_start": 8836,
"consequences": [
"missense_variant"
],
"exon_count": 73,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009971.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8836C>T",
"hgvs_p": "p.Pro2946Ser",
"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": "S",
"aa_end": null,
"aa_length": 4019,
"aa_ref": "P",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12684,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 12060,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017009972.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Pro652Ser",
"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": "S",
"aa_end": null,
"aa_length": 4012,
"aa_ref": "P",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12670,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 12039,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017009973.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Pro645Ser",
"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": "S",
"aa_end": null,
"aa_length": 3597,
"aa_ref": "P",
"aa_start": 2946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10980,
"cdna_start": 8935,
"cds_end": null,
"cds_length": 10794,
"cds_start": 8836,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017009974.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8836C>T",
"hgvs_p": "p.Pro2946Ser",
"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": "S",
"aa_end": null,
"aa_length": 3590,
"aa_ref": "P",
"aa_start": 2939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10980,
"cdna_start": 8914,
"cds_end": null,
"cds_length": 10773,
"cds_start": 8815,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_047417825.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.8815C>T",
"hgvs_p": "p.Pro2939Ser",
"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": 6608,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000639473.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.4274C>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": "ENST00000639473.1",
"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": 3241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000640012.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.*2425C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492538.1",
"strand": true,
"transcript": "ENST00000640012.1",
"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": 5401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
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}