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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: 19-7462259-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7462259&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ARHGEF18",
"hgnc_id": 17090,
"hgvs_c": "c.2560C>T",
"hgvs_p": "p.Arg854*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001367823.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_score": 10,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Retinitis pigmentosa 78,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 2975,
"cds_end": null,
"cds_length": 4086,
"cds_start": 2560,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001367823.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2560C>T",
"hgvs_p": "p.Arg854*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000668164.2",
"protein_coding": true,
"protein_id": "NP_001354752.1",
"strand": true,
"transcript": "NM_001367823.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 2975,
"cds_end": null,
"cds_length": 4086,
"cds_start": 2560,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000668164.2",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2560C>T",
"hgvs_p": "p.Arg854*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367823.1",
"protein_coding": true,
"protein_id": "ENSP00000499655.2",
"strand": true,
"transcript": "ENST00000668164.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5514,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000617428.4",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482647.4",
"strand": true,
"transcript": "ENST00000617428.4",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 3045,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000319670.14",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319200.8",
"strand": true,
"transcript": "ENST00000319670.14",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "R",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5734,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 3360,
"cds_start": 1834,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001130955.2",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124427.2",
"strand": true,
"transcript": "NM_001130955.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "R",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5733,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 3360,
"cds_start": 1834,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000359920.11",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352995.5",
"strand": true,
"transcript": "ENST00000359920.11",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5557,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001367824.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354753.1",
"strand": true,
"transcript": "NM_001367824.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_015318.4",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056133.2",
"strand": true,
"transcript": "NM_015318.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5368,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000594665.2",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470729.2",
"strand": true,
"transcript": "ENST00000594665.2",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "R",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6264,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 4281,
"cds_start": 2755,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005272464.5",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Arg919*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272521.1",
"strand": true,
"transcript": "XM_005272464.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "R",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7401,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 4281,
"cds_start": 2755,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011527836.3",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Arg919*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526138.1",
"strand": true,
"transcript": "XM_011527836.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1370,
"aa_ref": "R",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6508,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 4113,
"cds_start": 2755,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011527837.3",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Arg919*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526139.1",
"strand": true,
"transcript": "XM_011527837.3",
"transcript_support_level": null
},
{
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"aa_length": 1361,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6844,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 4086,
"cds_start": 2560,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_006722706.4",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2560C>T",
"hgvs_p": "p.Arg854*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722769.1",
"strand": true,
"transcript": "XM_006722706.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "R",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6329,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 4038,
"cds_start": 2512,
"consequences": [
"stop_gained"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011527839.3",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526141.1",
"strand": true,
"transcript": "XM_011527839.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 1015,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6318,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438526.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294482.1",
"strand": true,
"transcript": "XM_047438526.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438528.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294484.1",
"strand": true,
"transcript": "XM_047438528.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 959,
"aa_ref": "R",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2755,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011527841.3",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Arg919*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526143.1",
"strand": true,
"transcript": "XM_011527841.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5425,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 2880,
"cds_start": 1522,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438527.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294483.1",
"strand": true,
"transcript": "XM_047438527.1",
"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": 6287,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XR_007066705.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "n.2779C>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": "XR_007066705.1",
"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": 5204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_007066706.1",
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"hgvs_c": "n.1696C>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": "XR_007066706.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1064793000",
"effect": "stop_gained",
"frequency_reference_population": 0.000005577286,
"gene_hgnc_id": 17090,
"gene_symbol": "ARHGEF18",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000478975,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131377,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Retinitis pigmentosa 78|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.793,
"pos": 7462259,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001367823.1"
}
]
}