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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: 5-90840915-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90840915&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"hgvs_c": "c.16949_16950delCCinsTT",
"hgvs_p": "p.Thr5650Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032119.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"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": "I",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "T",
"aa_start": 5650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 17048,
"cds_end": null,
"cds_length": 18921,
"cds_start": 16949,
"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.16949_16950delCCinsTT",
"hgvs_p": "p.Thr5650Ile",
"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": "T",
"aa_start": 5650,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 17048,
"cds_end": null,
"cds_length": 18921,
"cds_start": 16949,
"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.16949_16950delCCinsTT",
"hgvs_p": "p.Thr5650Ile",
"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": 6503,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000638510.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.4216_4217delCCinsTT",
"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": "ENST00000638510.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2624,
"aa_ref": "T",
"aa_start": 1968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8141,
"cdna_start": 5903,
"cds_end": null,
"cds_length": 7875,
"cds_start": 5903,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425867.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.5903_5904delCCinsTT",
"hgvs_p": "p.Thr1968Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392618.3",
"strand": true,
"transcript": "ENST00000425867.3",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 6313,
"aa_ref": "T",
"aa_start": 5657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19578,
"cdna_start": 17069,
"cds_end": null,
"cds_length": 18942,
"cds_start": 16970,
"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.16970_16971delCCinsTT",
"hgvs_p": "p.Thr5657Ile",
"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": "T",
"aa_start": 5656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19575,
"cdna_start": 17066,
"cds_end": null,
"cds_length": 18939,
"cds_start": 16967,
"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.16967_16968delCCinsTT",
"hgvs_p": "p.Thr5656Ile",
"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": "T",
"aa_start": 5656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19594,
"cdna_start": 17085,
"cds_end": null,
"cds_length": 18939,
"cds_start": 16967,
"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.16967_16968delCCinsTT",
"hgvs_p": "p.Thr5656Ile",
"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": "T",
"aa_start": 5649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19554,
"cdna_start": 17045,
"cds_end": null,
"cds_length": 18918,
"cds_start": 16946,
"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.16946_16947delCCinsTT",
"hgvs_p": "p.Thr5649Ile",
"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": "T",
"aa_start": 5630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19497,
"cdna_start": 16988,
"cds_end": null,
"cds_length": 18861,
"cds_start": 16889,
"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.16889_16890delCCinsTT",
"hgvs_p": "p.Thr5630Ile",
"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": "T",
"aa_start": 5625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19482,
"cdna_start": 16973,
"cds_end": null,
"cds_length": 18846,
"cds_start": 16874,
"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.16874_16875delCCinsTT",
"hgvs_p": "p.Thr5625Ile",
"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": "T",
"aa_start": 5597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19398,
"cdna_start": 16889,
"cds_end": null,
"cds_length": 18762,
"cds_start": 16790,
"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.16790_16791delCCinsTT",
"hgvs_p": "p.Thr5597Ile",
"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": "T",
"aa_start": 5657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19208,
"cdna_start": 17069,
"cds_end": null,
"cds_length": 18516,
"cds_start": 16970,
"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.16970_16971delCCinsTT",
"hgvs_p": "p.Thr5657Ile",
"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": 4019,
"aa_ref": "T",
"aa_start": 3363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12684,
"cdna_start": 10175,
"cds_end": null,
"cds_length": 12060,
"cds_start": 10088,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009972.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.10088_10089delCCinsTT",
"hgvs_p": "p.Thr3363Ile",
"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": "T",
"aa_start": 3356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12670,
"cdna_start": 10161,
"cds_end": null,
"cds_length": 12039,
"cds_start": 10067,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009973.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.10067_10068delCCinsTT",
"hgvs_p": "p.Thr3356Ile",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640061.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.466_467delCCinsTT",
"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": "ENST00000640061.1",
"transcript_support_level": 4
},
{
"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": 5673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000640407.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.*581_*582delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491425.1",
"strand": true,
"transcript": "ENST00000640407.1",
"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": 78,
"exon_rank_end": null,
"feature": "NR_003149.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.16965_16966delCCinsTT",
"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
},
{
"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": 5673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000640407.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.*581_*582delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491425.1",
"strand": true,
"transcript": "ENST00000640407.1",
"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": 611,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639431.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.266-144429_266-144428delCCinsTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491057.1",
"strand": true,
"transcript": "ENST00000639431.1",
"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": 2433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638990.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.-32_-31delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492781.1",
"strand": true,
"transcript": "ENST00000638990.1",
"transcript_support_level": 5
}
],
"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,
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}
]
}