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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: 7-48046480-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=48046480&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 48046480,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000348904.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "NM_001100159.3",
"protein_id": "NP_001093629.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 295,
"cds_start": 371,
"cds_end": null,
"cds_length": 888,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "ENST00000348904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000348904.4",
"protein_id": "ENSP00000335500.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 295,
"cds_start": 371,
"cds_end": null,
"cds_length": 888,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "NM_001100159.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000435376.5",
"protein_id": "ENSP00000391652.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 153,
"cds_start": 5,
"cds_end": null,
"cds_length": 462,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000430738.5",
"protein_id": "ENSP00000410944.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 340,
"cds_start": 506,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000420324.5",
"protein_id": "ENSP00000394648.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 324,
"cds_start": 506,
"cds_end": null,
"cds_length": 975,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "NM_001267865.2",
"protein_id": "NP_001254794.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 157,
"cds_start": 5,
"cds_end": null,
"cds_length": 474,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000539619.5",
"protein_id": "ENSP00000442474.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 157,
"cds_start": 5,
"cds_end": null,
"cds_length": 474,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "NM_001267866.2",
"protein_id": "NP_001254795.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 153,
"cds_start": 5,
"cds_end": null,
"cds_length": 462,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "XM_011515121.3",
"protein_id": "XP_011513423.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 295,
"cds_start": 371,
"cds_end": null,
"cds_length": 888,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "XM_024446653.2",
"protein_id": "XP_024302421.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 291,
"cds_start": 371,
"cds_end": null,
"cds_length": 876,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "XM_047419885.1",
"protein_id": "XP_047275841.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 291,
"cds_start": 371,
"cds_end": null,
"cds_length": 876,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "XM_011515122.4",
"protein_id": "XP_011513424.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 279,
"cds_start": 371,
"cds_end": null,
"cds_length": 840,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "XM_047419886.1",
"protein_id": "XP_047275842.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 275,
"cds_start": 371,
"cds_end": null,
"cds_length": 828,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_006715650.4",
"protein_id": "XP_006715713.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 173,
"cds_start": 5,
"cds_end": null,
"cds_length": 522,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C7orf57",
"gene_hgnc_id": 22247,
"dbsnp": "rs2708912",
"frequency_reference_population": 0.9000771,
"hom_count_reference_population": 656402,
"allele_count_reference_population": 1451981,
"gnomad_exomes_af": 0.904336,
"gnomad_genomes_af": 0.859193,
"gnomad_exomes_ac": 1321229,
"gnomad_genomes_ac": 130752,
"gnomad_exomes_homalt": 599701,
"gnomad_genomes_homalt": 56701,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000027126152417622507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.6178,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.914,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000348904.4",
"gene_symbol": "C7orf57",
"hgnc_id": 22247,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}