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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: 2-211383653-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=211383653&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 211383653,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005235.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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.3889C>T",
"hgvs_p": "p.Pro1297Ser",
"transcript": "NM_005235.3",
"protein_id": "NP_005226.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3889,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 4161,
"cdna_end": null,
"cdna_length": 12097,
"mane_select": "ENST00000342788.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3889C>T",
"hgvs_p": "p.Pro1297Ser",
"transcript": "ENST00000342788.9",
"protein_id": "ENSP00000342235.4",
"transcript_support_level": 1,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3889,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 4161,
"cdna_end": null,
"cdna_length": 12097,
"mane_select": "NM_005235.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3841C>T",
"hgvs_p": "p.Pro1281Ser",
"transcript": "ENST00000436443.5",
"protein_id": "ENSP00000403204.1",
"transcript_support_level": 1,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3841,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4152,
"cdna_end": null,
"cdna_length": 12084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3859C>T",
"hgvs_p": "p.Pro1287Ser",
"transcript": "NM_001439005.1",
"protein_id": "NP_001425934.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3859,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4131,
"cdna_end": null,
"cdna_length": 12067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3841C>T",
"hgvs_p": "p.Pro1281Ser",
"transcript": "NM_001042599.2",
"protein_id": "NP_001036064.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3841,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4113,
"cdna_end": null,
"cdna_length": 12049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3811C>T",
"hgvs_p": "p.Pro1271Ser",
"transcript": "NM_001439006.1",
"protein_id": "NP_001425935.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3811,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 4083,
"cdna_end": null,
"cdna_length": 12019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3811C>T",
"hgvs_p": "p.Pro1271Ser",
"transcript": "ENST00000260943.11",
"protein_id": "ENSP00000260943.7",
"transcript_support_level": 5,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3811,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3811,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.4012C>T",
"hgvs_p": "p.Pro1338Ser",
"transcript": "XM_017003577.3",
"protein_id": "XP_016859066.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1349,
"cds_start": 4012,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 4284,
"cdna_end": null,
"cdna_length": 12220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3967C>T",
"hgvs_p": "p.Pro1323Ser",
"transcript": "XM_017003578.3",
"protein_id": "XP_016859067.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3967,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 4239,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3964C>T",
"hgvs_p": "p.Pro1322Ser",
"transcript": "XM_017003579.3",
"protein_id": "XP_016859068.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3964,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 4236,
"cdna_end": null,
"cdna_length": 12172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3937C>T",
"hgvs_p": "p.Pro1313Ser",
"transcript": "XM_017003580.3",
"protein_id": "XP_016859069.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3937,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 4209,
"cdna_end": null,
"cdna_length": 12145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3934C>T",
"hgvs_p": "p.Pro1312Ser",
"transcript": "XM_006712364.4",
"protein_id": "XP_006712427.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3934,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 4206,
"cdna_end": null,
"cdna_length": 12142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3919C>T",
"hgvs_p": "p.Pro1307Ser",
"transcript": "XM_017003581.3",
"protein_id": "XP_016859070.1",
"transcript_support_level": null,
"aa_start": 1307,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3919,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 4191,
"cdna_end": null,
"cdna_length": 12127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.3313C>T",
"hgvs_p": "p.Pro1105Ser",
"transcript": "XM_017003582.2",
"protein_id": "XP_016859071.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 11627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"dbsnp": "rs1279524244",
"frequency_reference_population": 0.000002736843,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273684,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6285126209259033,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.482,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.374,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005235.3",
"gene_symbol": "ERBB4",
"hgnc_id": 3432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3889C>T",
"hgvs_p": "p.Pro1297Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}