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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: 14-96392259-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96392259&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "AK7",
"hgnc_id": 20091,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_152327.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.18000000715255737,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 723,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2172,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_152327.5",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267584.9",
"protein_coding": true,
"protein_id": "NP_689540.2",
"strand": true,
"transcript": "NM_152327.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 723,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2172,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000267584.9",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152327.5",
"protein_coding": true,
"protein_id": "ENSP00000267584.4",
"strand": true,
"transcript": "ENST00000267584.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 751,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 117,
"cds_end": null,
"cds_length": 2256,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856706.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526765.1",
"strand": true,
"transcript": "ENST00000856706.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 707,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2124,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350888.2",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337817.1",
"strand": true,
"transcript": "NM_001350888.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 700,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2103,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350890.2",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337819.1",
"strand": true,
"transcript": "NM_001350890.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 700,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 120,
"cds_end": null,
"cds_length": 2103,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856705.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526764.1",
"strand": true,
"transcript": "ENST00000856705.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2094,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350891.2",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337820.1",
"strand": true,
"transcript": "NM_001350891.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 697,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 127,
"cds_end": null,
"cds_length": 2094,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856703.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526762.1",
"strand": true,
"transcript": "ENST00000856703.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 680,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2043,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856702.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526761.1",
"strand": true,
"transcript": "ENST00000856702.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 670,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 119,
"cds_end": null,
"cds_length": 2013,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856707.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526766.1",
"strand": true,
"transcript": "ENST00000856707.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 660,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 132,
"cds_end": null,
"cds_length": 1983,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856708.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526767.1",
"strand": true,
"transcript": "ENST00000856708.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 657,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 132,
"cds_end": null,
"cds_length": 1974,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350892.2",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337821.1",
"strand": true,
"transcript": "NM_001350892.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 657,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 127,
"cds_end": null,
"cds_length": 1974,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856704.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526763.1",
"strand": true,
"transcript": "ENST00000856704.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 631,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 117,
"cds_end": null,
"cds_length": 1896,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856701.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526760.1",
"strand": true,
"transcript": "ENST00000856701.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 107,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 127,
"cds_end": null,
"cds_length": 324,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000555570.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451068.1",
"strand": true,
"transcript": "ENST00000555570.1",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 730,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2193,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006720021.3",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720084.1",
"strand": true,
"transcript": "XM_006720021.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 704,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2115,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006720022.3",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720085.1",
"strand": true,
"transcript": "XM_006720022.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 674,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": 132,
"cds_end": null,
"cds_length": 2025,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047430913.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286869.1",
"strand": true,
"transcript": "XM_047430913.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 664,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 132,
"cds_end": null,
"cds_length": 1995,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017020958.2",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876447.1",
"strand": true,
"transcript": "XM_017020958.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 638,
"aa_ref": "K",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3354,
"cdna_start": 132,
"cds_end": null,
"cds_length": 1917,
"cds_start": 105,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017020960.2",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Lys35Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876449.1",
"strand": true,
"transcript": "XM_017020960.2",
"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": 601,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000556643.1",
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"hgvs_c": "n.116G>A",
"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": "ENST00000556643.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999927235522657,
"dbsnp": "rs760985683",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.000001862313,
"gene_hgnc_id": 20091,
"gene_symbol": "AK7",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85564e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131366,
"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": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.333,
"pos": 96392259,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.984000027179718,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.19,
"transcript": "NM_152327.5"
}
]
}