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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: 1-173530035-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173530035&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC9C2",
"hgnc_id": 28664,
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_178527.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1722,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25741106271743774,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "I",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_178527.4",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367714.4",
"protein_coding": true,
"protein_id": "NP_848622.2",
"strand": false,
"transcript": "NM_178527.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "I",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000367714.4",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178527.4",
"protein_coding": true,
"protein_id": "ENSP00000356687.3",
"strand": false,
"transcript": "ENST00000367714.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000466087.1",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "n.1517T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466087.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "I",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011509426.3",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507728.1",
"strand": false,
"transcript": "XM_011509426.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "I",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4397,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017001065.3",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856554.1",
"strand": false,
"transcript": "XM_017001065.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "I",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2183,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017001066.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856555.1",
"strand": false,
"transcript": "XM_017001066.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "I",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4347,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2057,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017001068.3",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2057T>C",
"hgvs_p": "p.Ile686Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856557.1",
"strand": false,
"transcript": "XM_017001068.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "I",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4296,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2057,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017001069.3",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2057T>C",
"hgvs_p": "p.Ile686Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856558.1",
"strand": false,
"transcript": "XM_017001069.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "I",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2057,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017001070.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2057T>C",
"hgvs_p": "p.Ile686Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856559.1",
"strand": false,
"transcript": "XM_017001070.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1083,
"aa_ref": "I",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 3252,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017001071.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.2045T>C",
"hgvs_p": "p.Ile682Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856560.1",
"strand": false,
"transcript": "XM_017001071.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "I",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017001072.3",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.1916T>C",
"hgvs_p": "p.Ile639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856561.1",
"strand": false,
"transcript": "XM_017001072.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "I",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 3084,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017001073.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.1877T>C",
"hgvs_p": "p.Ile626Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856562.1",
"strand": false,
"transcript": "XM_017001073.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "I",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 3084,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017001074.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.1877T>C",
"hgvs_p": "p.Ile626Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856563.1",
"strand": false,
"transcript": "XM_017001074.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 880,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047418169.1",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.1436T>C",
"hgvs_p": "p.Ile479Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274125.1",
"strand": false,
"transcript": "XM_047418169.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 880,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047418170.1",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.1436T>C",
"hgvs_p": "p.Ile479Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274126.1",
"strand": false,
"transcript": "XM_047418170.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "I",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1103,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017001075.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Ile368Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856564.1",
"strand": false,
"transcript": "XM_017001075.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "I",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 975,
"cds_end": null,
"cds_length": 2064,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017001076.2",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "c.857T>C",
"hgvs_p": "p.Ile286Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856565.1",
"strand": false,
"transcript": "XM_017001076.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648789.1",
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"hgvs_c": "n.788T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648789.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1661466886",
"effect": "missense_variant",
"frequency_reference_population": 0.0000012416623,
"gene_hgnc_id": 28664,
"gene_symbol": "SLC9C2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85585e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657307,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.542,
"pos": 173530035,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.067,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_178527.4"
}
]
}