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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: 5-90807650-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90807650&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90807650,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000405460.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14885G>A",
"hgvs_p": "p.Trp4962*",
"transcript": "NM_032119.4",
"protein_id": "NP_115495.3",
"transcript_support_level": null,
"aa_start": 4962,
"aa_end": null,
"aa_length": 6306,
"cds_start": 14885,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 14984,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "ENST00000405460.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14885G>A",
"hgvs_p": "p.Trp4962*",
"transcript": "ENST00000405460.9",
"protein_id": "ENSP00000384582.2",
"transcript_support_level": 1,
"aa_start": 4962,
"aa_end": null,
"aa_length": 6306,
"cds_start": 14885,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 14984,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "NM_032119.4",
"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": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.2152G>A",
"hgvs_p": null,
"transcript": "ENST00000638510.1",
"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": 6503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.3839G>A",
"hgvs_p": "p.Trp1280*",
"transcript": "ENST00000425867.3",
"protein_id": "ENSP00000392618.3",
"transcript_support_level": 5,
"aa_start": 1280,
"aa_end": null,
"aa_length": 2624,
"cds_start": 3839,
"cds_end": null,
"cds_length": 7875,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14906G>A",
"hgvs_p": "p.Trp4969*",
"transcript": "XM_017009963.3",
"protein_id": "XP_016865452.1",
"transcript_support_level": null,
"aa_start": 4969,
"aa_end": null,
"aa_length": 6313,
"cds_start": 14906,
"cds_end": null,
"cds_length": 18942,
"cdna_start": 15005,
"cdna_end": null,
"cdna_length": 19578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14903G>A",
"hgvs_p": "p.Trp4968*",
"transcript": "XM_017009964.3",
"protein_id": "XP_016865453.1",
"transcript_support_level": null,
"aa_start": 4968,
"aa_end": null,
"aa_length": 6312,
"cds_start": 14903,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 15002,
"cdna_end": null,
"cdna_length": 19575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14903G>A",
"hgvs_p": "p.Trp4968*",
"transcript": "XM_017009965.2",
"protein_id": "XP_016865454.1",
"transcript_support_level": null,
"aa_start": 4968,
"aa_end": null,
"aa_length": 6312,
"cds_start": 14903,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 15021,
"cdna_end": null,
"cdna_length": 19594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14882G>A",
"hgvs_p": "p.Trp4961*",
"transcript": "XM_047417824.1",
"protein_id": "XP_047273780.1",
"transcript_support_level": null,
"aa_start": 4961,
"aa_end": null,
"aa_length": 6305,
"cds_start": 14882,
"cds_end": null,
"cds_length": 18918,
"cdna_start": 14981,
"cdna_end": null,
"cdna_length": 19554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14825G>A",
"hgvs_p": "p.Trp4942*",
"transcript": "XM_017009966.3",
"protein_id": "XP_016865455.1",
"transcript_support_level": null,
"aa_start": 4942,
"aa_end": null,
"aa_length": 6286,
"cds_start": 14825,
"cds_end": null,
"cds_length": 18861,
"cdna_start": 14924,
"cdna_end": null,
"cdna_length": 19497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14810G>A",
"hgvs_p": "p.Trp4937*",
"transcript": "XM_017009967.2",
"protein_id": "XP_016865456.1",
"transcript_support_level": null,
"aa_start": 4937,
"aa_end": null,
"aa_length": 6281,
"cds_start": 14810,
"cds_end": null,
"cds_length": 18846,
"cdna_start": 14909,
"cdna_end": null,
"cdna_length": 19482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14906G>A",
"hgvs_p": "p.Trp4969*",
"transcript": "XM_017009969.3",
"protein_id": "XP_016865458.1",
"transcript_support_level": null,
"aa_start": 4969,
"aa_end": null,
"aa_length": 6171,
"cds_start": 14906,
"cds_end": null,
"cds_length": 18516,
"cdna_start": 15005,
"cdna_end": null,
"cdna_length": 19208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14906G>A",
"hgvs_p": "p.Trp4969*",
"transcript": "XM_017009970.3",
"protein_id": "XP_016865459.1",
"transcript_support_level": null,
"aa_start": 4969,
"aa_end": null,
"aa_length": 5002,
"cds_start": 14906,
"cds_end": null,
"cds_length": 15009,
"cdna_start": 15005,
"cdna_end": null,
"cdna_length": 15211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8024G>A",
"hgvs_p": "p.Trp2675*",
"transcript": "XM_017009972.2",
"protein_id": "XP_016865461.1",
"transcript_support_level": null,
"aa_start": 2675,
"aa_end": null,
"aa_length": 4019,
"cds_start": 8024,
"cds_end": null,
"cds_length": 12060,
"cdna_start": 8111,
"cdna_end": null,
"cdna_length": 12684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.8003G>A",
"hgvs_p": "p.Trp2668*",
"transcript": "XM_017009973.2",
"protein_id": "XP_016865462.1",
"transcript_support_level": null,
"aa_start": 2668,
"aa_end": null,
"aa_length": 4012,
"cds_start": 8003,
"cds_end": null,
"cds_length": 12039,
"cdna_start": 8097,
"cdna_end": null,
"cdna_length": 12670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14731G>A",
"hgvs_p": "p.Gly4911Arg",
"transcript": "XM_017009968.3",
"protein_id": "XP_016865457.1",
"transcript_support_level": null,
"aa_start": 4911,
"aa_end": null,
"aa_length": 6253,
"cds_start": 14731,
"cds_end": null,
"cds_length": 18762,
"cdna_start": 14830,
"cdna_end": null,
"cdna_length": 19398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.14731G>A",
"hgvs_p": "p.Gly4911Arg",
"transcript": "XM_017009971.3",
"protein_id": "XP_016865460.1",
"transcript_support_level": null,
"aa_start": 4911,
"aa_end": null,
"aa_length": 4963,
"cds_start": 14731,
"cds_end": null,
"cds_length": 14892,
"cdna_start": 14830,
"cdna_end": null,
"cdna_length": 16023,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.581G>A",
"hgvs_p": null,
"transcript": "ENST00000513828.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 596,
"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": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.1295G>A",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
"protein_id": "ENSP00000491425.1",
"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": 5673,
"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": 73,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.14901G>A",
"hgvs_p": null,
"transcript": "NR_003149.2",
"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": 19474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.428-2583G>A",
"hgvs_p": null,
"transcript": "ENST00000638585.1",
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.265+131441G>A",
"hgvs_p": null,
"transcript": "ENST00000639431.1",
"protein_id": "ENSP00000491057.1",
"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": 611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"dbsnp": "rs876657694",
"frequency_reference_population": 6.84502e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84502e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27000001072883606,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.057,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000405460.9",
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.14885G>A",
"hgvs_p": "p.Trp4962*"
}
],
"clinvar_disease": "Rare genetic deafness",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Rare genetic deafness",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}