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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: 4-121828172-TGC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=121828172&ref=TGC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 121828172,
"ref": "TGC",
"alt": "A",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_176824.3",
"consequences": [
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1986_1988delGCAinsT",
"hgvs_p": "p.Lys662fs",
"transcript": "NM_176824.3",
"protein_id": "NP_789794.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 715,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264499.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176824.3"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1986_1988delGCAinsT",
"hgvs_p": "p.Lys662fs",
"transcript": "ENST00000264499.9",
"protein_id": "ENSP00000264499.4",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 715,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_176824.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264499.9"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1986_1988delGCAinsT",
"hgvs_p": "p.Lys662fs",
"transcript": "ENST00000506636.1",
"protein_id": "ENSP00000423626.1",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 672,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506636.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.2034_2036delGCAinsT",
"hgvs_p": "p.Lys678fs",
"transcript": "ENST00000888033.1",
"protein_id": "ENSP00000558092.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 731,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888033.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.2031_2033delGCAinsT",
"hgvs_p": "p.Lys677fs",
"transcript": "ENST00000888034.1",
"protein_id": "ENSP00000558093.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 730,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888034.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1989_1991delGCAinsT",
"hgvs_p": "p.Lys663fs",
"transcript": "ENST00000888035.1",
"protein_id": "ENSP00000558094.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 716,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888035.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1986_1988delGCAinsT",
"hgvs_p": "p.Lys662fs",
"transcript": "NM_018190.4",
"protein_id": "NP_060660.2",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 672,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018190.4"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1824_1826delGCAinsT",
"hgvs_p": "p.Lys608fs",
"transcript": "ENST00000959506.1",
"protein_id": "ENSP00000629565.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 661,
"cds_start": 1824,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959506.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1821_1823delGCAinsT",
"hgvs_p": "p.Lys607fs",
"transcript": "ENST00000888036.1",
"protein_id": "ENSP00000558095.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 660,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888036.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.255_257delGCAinsT",
"hgvs_p": "p.Lys85fs",
"transcript": "ENST00000507814.5",
"protein_id": "ENSP00000423250.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 138,
"cds_start": 255,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507814.5"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.2034_2036delGCAinsT",
"hgvs_p": "p.Lys678fs",
"transcript": "XM_011532079.4",
"protein_id": "XP_011530381.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 731,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532079.4"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.2031_2033delGCAinsT",
"hgvs_p": "p.Lys677fs",
"transcript": "XM_011532080.4",
"protein_id": "XP_011530382.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 730,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532080.4"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1989_1991delGCAinsT",
"hgvs_p": "p.Lys663fs",
"transcript": "XM_005263106.5",
"protein_id": "XP_005263163.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 716,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263106.5"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1869_1871delGCAinsT",
"hgvs_p": "p.Lys623fs",
"transcript": "XM_011532081.4",
"protein_id": "XP_011530383.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 676,
"cds_start": 1869,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532081.4"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1866_1868delGCAinsT",
"hgvs_p": "p.Lys622fs",
"transcript": "XM_047415889.1",
"protein_id": "XP_047271845.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 675,
"cds_start": 1866,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415889.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1824_1826delGCAinsT",
"hgvs_p": "p.Lys608fs",
"transcript": "XM_047415890.1",
"protein_id": "XP_047271846.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 661,
"cds_start": 1824,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415890.1"
},
{
"aa_ref": "KQ",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"hgvs_c": "c.1821_1823delGCAinsT",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_017008357.3",
"protein_id": "XP_016863846.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 660,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008357.3"
}
],
"gene_symbol": "BBS7",
"gene_hgnc_id": 18758,
"dbsnp": "rs863224529",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.834,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP2,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_176824.3",
"gene_symbol": "BBS7",
"hgnc_id": 18758,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1986_1988delGCAinsT",
"hgvs_p": "p.Lys662fs"
}
],
"clinvar_disease": "BBS7-related disorder,Bardet-Biedl syndrome,Bardet-Biedl syndrome 7",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Bardet-Biedl syndrome|BBS7-related disorder|Bardet-Biedl syndrome 7",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}