← Back to variant description
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: 2-218428002-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218428002&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218428002,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007127.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "NM_007127.3",
"protein_id": "NP_009058.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 827,
"cds_start": 385,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248444.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007127.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000248444.10",
"protein_id": "ENSP00000248444.5",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 827,
"cds_start": 385,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007127.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248444.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000440053.1",
"protein_id": "ENSP00000409270.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 421,
"cds_start": 385,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440053.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879964.1",
"protein_id": "ENSP00000550023.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 828,
"cds_start": 385,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879964.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879969.1",
"protein_id": "ENSP00000550028.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 827,
"cds_start": 385,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879969.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879973.1",
"protein_id": "ENSP00000550032.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 827,
"cds_start": 385,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879973.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879967.1",
"protein_id": "ENSP00000550026.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 826,
"cds_start": 385,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879967.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879968.1",
"protein_id": "ENSP00000550027.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 824,
"cds_start": 385,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879968.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879972.1",
"protein_id": "ENSP00000550031.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 823,
"cds_start": 385,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879972.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879962.1",
"protein_id": "ENSP00000550021.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 818,
"cds_start": 385,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879962.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879963.1",
"protein_id": "ENSP00000550022.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 799,
"cds_start": 385,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879963.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879966.1",
"protein_id": "ENSP00000550025.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 794,
"cds_start": 385,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879966.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879971.1",
"protein_id": "ENSP00000550030.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 782,
"cds_start": 385,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879971.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879965.1",
"protein_id": "ENSP00000550024.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 781,
"cds_start": 385,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879965.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879961.1",
"protein_id": "ENSP00000550020.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 780,
"cds_start": 385,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879961.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000879970.1",
"protein_id": "ENSP00000550029.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 767,
"cds_start": 385,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879970.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"transcript": "ENST00000938226.1",
"protein_id": "ENSP00000608285.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 721,
"cds_start": 385,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938226.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Met",
"transcript": "ENST00000454069.5",
"protein_id": "ENSP00000412657.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 156,
"cds_start": 373,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"hgvs_c": "c.-183-1466G>A",
"hgvs_p": null,
"transcript": "ENST00000392114.6",
"protein_id": "ENSP00000375962.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392114.6"
}
],
"gene_symbol": "VIL1",
"gene_hgnc_id": 12690,
"dbsnp": "rs374719806",
"frequency_reference_population": 0.000019206393,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000143652,
"gnomad_genomes_af": 0.0000657134,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2207227349281311,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.1405,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.029,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007127.3",
"gene_symbol": "VIL1",
"hgnc_id": 12690,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met"
}
],
"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
}