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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: 19-51891517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51891517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51891517,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023074.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "NM_023074.4",
"protein_id": "NP_075562.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354957.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023074.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000354957.8",
"protein_id": "ENSP00000347043.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023074.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354957.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000600738.5",
"protein_id": "ENSP00000468983.1",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 477,
"cds_start": 619,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600738.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000930182.1",
"protein_id": "ENSP00000600241.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 513,
"cds_start": 643,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930182.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000862520.1",
"protein_id": "ENSP00000532579.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862520.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000966435.1",
"protein_id": "ENSP00000636494.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966435.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000966436.1",
"protein_id": "ENSP00000636495.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966436.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000966437.1",
"protein_id": "ENSP00000636496.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966437.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met",
"transcript": "ENST00000966438.1",
"protein_id": "ENSP00000636497.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966438.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "XM_047439238.1",
"protein_id": "XP_047295194.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 501,
"cds_start": 607,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439238.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Val62Met",
"transcript": "XM_047439239.1",
"protein_id": "XP_047295195.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 360,
"cds_start": 184,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439239.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF649-AS1",
"gene_hgnc_id": 51285,
"hgvs_c": "n.104+3391C>T",
"hgvs_p": null,
"transcript": "ENST00000600329.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000600329.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF649-AS1",
"gene_hgnc_id": 51285,
"hgvs_c": "n.58+3391C>T",
"hgvs_p": null,
"transcript": "ENST00000808742.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000808742.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF649-AS1",
"gene_hgnc_id": 51285,
"hgvs_c": "n.102+3391C>T",
"hgvs_p": null,
"transcript": "NR_110733.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110733.1"
}
],
"gene_symbol": "ZNF649",
"gene_hgnc_id": 25741,
"dbsnp": "rs755880182",
"frequency_reference_population": 0.00004956316,
"hom_count_reference_population": 0,
"allele_count_reference_population": 80,
"gnomad_exomes_af": 0.0000471993,
"gnomad_genomes_af": 0.0000722657,
"gnomad_exomes_ac": 69,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04574376344680786,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.2402,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.1,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_023074.4",
"gene_symbol": "ZNF649",
"hgnc_id": 25741,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Val207Met"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000600329.2",
"gene_symbol": "ZNF649-AS1",
"hgnc_id": 51285,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104+3391C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}