← 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: 5-90653277-AA-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90653277&ref=AA&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_032119.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18921,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032119.4",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18921,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000405460.9",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "S",
"aa_end": null,
"aa_length": 2037,
"aa_ref": "N",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6723,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 6115,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640403.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.994_995delAAinsTC",
"hgvs_p": "p.Asn332Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19578,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18942,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009963.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19575,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18939,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009964.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19594,
"cdna_start": 3818,
"cds_end": null,
"cds_length": 18939,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009965.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3700_3701delAAinsTC",
"hgvs_p": "p.Asn1234Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19554,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18918,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417824.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19497,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18861,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009966.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19482,
"cdna_start": 3706,
"cds_end": null,
"cds_length": 18846,
"cds_start": 3607,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009967.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3607_3608delAAinsTC",
"hgvs_p": "p.Asn1203Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19398,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18762,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009968.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19208,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 18516,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009969.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "S",
"aa_end": null,
"aa_length": 5002,
"aa_ref": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15211,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 15009,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 74,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009970.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16023,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 14892,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 73,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009971.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": 3597,
"aa_ref": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10980,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 10794,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009974.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": "N",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10980,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 10773,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417825.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.3703_3704delAAinsTC",
"hgvs_p": "p.Asn1235Ser",
"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": 5047,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000504142.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.2469_2470delAAinsTC",
"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": "ENST00000504142.2",
"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": 3116,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000639676.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.1301_1302delAAinsTC",
"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": "ENST00000639676.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 19474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 90,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NR_003149.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.3802_3803delAAinsTC",
"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": "NR_003149.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.918,
"pos": 90653277,
"ref": "AA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_032119.4"
}
]
}