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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: 2-211383796-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=211383796&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 211383796,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005235.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3746C>T",
"hgvs_p": "p.Pro1249Leu",
"transcript": "NM_005235.3",
"protein_id": "NP_005226.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3746,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 12097,
"mane_select": "ENST00000342788.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3746C>T",
"hgvs_p": "p.Pro1249Leu",
"transcript": "ENST00000342788.9",
"protein_id": "ENSP00000342235.4",
"transcript_support_level": 1,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3746,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 12097,
"mane_select": "NM_005235.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3698C>T",
"hgvs_p": "p.Pro1233Leu",
"transcript": "ENST00000436443.5",
"protein_id": "ENSP00000403204.1",
"transcript_support_level": 1,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3698,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4009,
"cdna_end": null,
"cdna_length": 12084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3716C>T",
"hgvs_p": "p.Pro1239Leu",
"transcript": "NM_001439005.1",
"protein_id": "NP_001425934.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3988,
"cdna_end": null,
"cdna_length": 12067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3698C>T",
"hgvs_p": "p.Pro1233Leu",
"transcript": "NM_001042599.2",
"protein_id": "NP_001036064.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3698,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 12049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3668C>T",
"hgvs_p": "p.Pro1223Leu",
"transcript": "NM_001439006.1",
"protein_id": "NP_001425935.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3668,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 12019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3668C>T",
"hgvs_p": "p.Pro1223Leu",
"transcript": "ENST00000260943.11",
"protein_id": "ENSP00000260943.7",
"transcript_support_level": 5,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3668,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3869C>T",
"hgvs_p": "p.Pro1290Leu",
"transcript": "XM_017003577.3",
"protein_id": "XP_016859066.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3869,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 4141,
"cdna_end": null,
"cdna_length": 12220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3824C>T",
"hgvs_p": "p.Pro1275Leu",
"transcript": "XM_017003578.3",
"protein_id": "XP_016859067.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3824,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3821C>T",
"hgvs_p": "p.Pro1274Leu",
"transcript": "XM_017003579.3",
"protein_id": "XP_016859068.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3821,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 4093,
"cdna_end": null,
"cdna_length": 12172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Pro1265Leu",
"transcript": "XM_017003580.3",
"protein_id": "XP_016859069.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3794,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 4066,
"cdna_end": null,
"cdna_length": 12145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3791C>T",
"hgvs_p": "p.Pro1264Leu",
"transcript": "XM_006712364.4",
"protein_id": "XP_006712427.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3791,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 4063,
"cdna_end": null,
"cdna_length": 12142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3776C>T",
"hgvs_p": "p.Pro1259Leu",
"transcript": "XM_017003581.3",
"protein_id": "XP_016859070.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3776,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 4048,
"cdna_end": null,
"cdna_length": 12127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3170C>T",
"hgvs_p": "p.Pro1057Leu",
"transcript": "XM_017003582.2",
"protein_id": "XP_016859071.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 11627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"dbsnp": "rs150628313",
"frequency_reference_population": 0.000053280466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000259941,
"gnomad_genomes_af": 0.000315308,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15070310235023499,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1416,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.08,
"phylop100way_prediction": "Uncertain_significance",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005235.3",
"gene_symbol": "ERBB4",
"hgnc_id": 3432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3746C>T",
"hgvs_p": "p.Pro1249Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}