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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: 16-75169254-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75169254&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ZFP1",
"hgnc_id": 23328,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_153688.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2044,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2087840735912323,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_153688.4",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000570010.6",
"protein_coding": true,
"protein_id": "NP_710155.2",
"strand": true,
"transcript": "NM_153688.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000570010.6",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153688.4",
"protein_coding": true,
"protein_id": "ENSP00000457044.1",
"strand": true,
"transcript": "ENST00000570010.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393430.6",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377080.2",
"strand": true,
"transcript": "ENST00000393430.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 374,
"aa_ref": "E",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 239,
"cds_end": null,
"cds_length": 1125,
"cds_start": 45,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000332307.4",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.45A>C",
"hgvs_p": "p.Glu15Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333192.4",
"strand": true,
"transcript": "ENST00000332307.4",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318469.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305398.1",
"strand": true,
"transcript": "NM_001318469.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000870669.1",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540728.1",
"strand": true,
"transcript": "ENST00000870669.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000870671.1",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540730.1",
"strand": true,
"transcript": "ENST00000870671.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 374,
"aa_ref": "E",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 382,
"cds_end": null,
"cds_length": 1125,
"cds_start": 45,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318471.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.45A>C",
"hgvs_p": "p.Glu15Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305400.1",
"strand": true,
"transcript": "NM_001318471.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 374,
"aa_ref": "E",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 249,
"cds_end": null,
"cds_length": 1125,
"cds_start": 45,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318472.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.45A>C",
"hgvs_p": "p.Glu15Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305401.1",
"strand": true,
"transcript": "NM_001318472.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318473.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.-22A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305402.1",
"strand": true,
"transcript": "NM_001318473.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318474.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.-22A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305403.1",
"strand": true,
"transcript": "NM_001318474.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 76,
"aa_ref": "K",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 421,
"cds_end": null,
"cds_length": 231,
"cds_start": 161,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318475.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.161A>C",
"hgvs_p": "p.Lys54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305404.1",
"strand": true,
"transcript": "NM_001318475.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 76,
"aa_ref": "K",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 324,
"cds_end": null,
"cds_length": 231,
"cds_start": 161,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318476.2",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.161A>C",
"hgvs_p": "p.Lys54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305405.1",
"strand": true,
"transcript": "NM_001318476.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 76,
"aa_ref": "K",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3067,
"cdna_start": 321,
"cds_end": null,
"cds_length": 231,
"cds_start": 161,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000464850.5",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.161A>C",
"hgvs_p": "p.Lys54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457941.1",
"strand": true,
"transcript": "ENST00000464850.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 76,
"aa_ref": "K",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 493,
"cdna_start": 421,
"cds_end": null,
"cds_length": 231,
"cds_start": 161,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000567481.1",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.161A>C",
"hgvs_p": "p.Lys54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455627.1",
"strand": true,
"transcript": "ENST00000567481.1",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 28,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 210,
"cds_end": null,
"cds_length": 87,
"cds_start": 17,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000568079.5",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Lys6Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454286.1",
"strand": true,
"transcript": "ENST00000568079.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "E",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3546,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1368,
"cds_start": 288,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047433668.1",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.288A>C",
"hgvs_p": "p.Glu96Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289624.1",
"strand": true,
"transcript": "XM_047433668.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 433,
"aa_ref": "E",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1302,
"cds_start": 222,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522921.3",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.222A>C",
"hgvs_p": "p.Glu74Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521223.1",
"strand": true,
"transcript": "XM_011522921.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1224,
"cds_start": 144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047433669.1",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Glu48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289625.1",
"strand": true,
"transcript": "XM_047433669.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 374,
"aa_ref": "E",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 151,
"cds_end": null,
"cds_length": 1125,
"cds_start": 45,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047433670.1",
"gene_hgnc_id": 23328,
"gene_symbol": "ZFP1",
"hgvs_c": "c.45A>C",
"hgvs_p": "p.Glu15Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289626.1",
"strand": true,
"transcript": "XM_047433670.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 76,
"aa_ref": "K",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 343,
"cds_end": null,
"cds_length": 231,
"cds_start": 161,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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}
]
}