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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: 8-23258340-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=23258340&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 23258340,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152272.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "NM_152272.5",
"protein_id": "NP_689485.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 453,
"cds_start": 851,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397677.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152272.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "ENST00000397677.6",
"protein_id": "ENSP00000380794.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 453,
"cds_start": 851,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397677.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "ENST00000313219.8",
"protein_id": "ENSP00000324491.7",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 453,
"cds_start": 851,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313219.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.821C>G",
"hgvs_p": null,
"transcript": "ENST00000523091.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000523091.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "ENST00000880275.1",
"protein_id": "ENSP00000550334.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 453,
"cds_start": 851,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880275.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "ENST00000962089.1",
"protein_id": "ENSP00000632148.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 453,
"cds_start": 851,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962089.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.845C>G",
"hgvs_p": "p.Ser282Cys",
"transcript": "ENST00000928664.1",
"protein_id": "ENSP00000598723.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 451,
"cds_start": 845,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928664.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.818C>G",
"hgvs_p": "p.Ser273Cys",
"transcript": "ENST00000880276.1",
"protein_id": "ENSP00000550335.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 442,
"cds_start": 818,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880276.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "NM_001363183.2",
"protein_id": "NP_001350112.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 429,
"cds_start": 851,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363183.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Ser222Cys",
"transcript": "ENST00000962090.1",
"protein_id": "ENSP00000632149.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 391,
"cds_start": 665,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962090.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.521C>G",
"hgvs_p": "p.Ser174Cys",
"transcript": "NM_001317899.2",
"protein_id": "NP_001304828.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 343,
"cds_start": 521,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317899.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ser170Cys",
"transcript": "ENST00000928665.1",
"protein_id": "ENSP00000598724.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 339,
"cds_start": 509,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928665.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "XM_047422416.1",
"protein_id": "XP_047278372.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 429,
"cds_start": 851,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422416.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.521C>G",
"hgvs_p": "p.Ser174Cys",
"transcript": "XM_047422417.1",
"protein_id": "XP_047278373.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 319,
"cds_start": 521,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*441C>G",
"hgvs_p": null,
"transcript": "ENST00000517325.5",
"protein_id": "ENSP00000430321.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000517325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*187C>G",
"hgvs_p": null,
"transcript": "ENST00000519503.5",
"protein_id": "ENSP00000427948.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.539C>G",
"hgvs_p": null,
"transcript": "ENST00000519529.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000519529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.143C>G",
"hgvs_p": null,
"transcript": "ENST00000520102.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*441C>G",
"hgvs_p": null,
"transcript": "ENST00000517325.5",
"protein_id": "ENSP00000430321.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000517325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*187C>G",
"hgvs_p": null,
"transcript": "ENST00000519503.5",
"protein_id": "ENSP00000427948.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519503.5"
}
],
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"dbsnp": "rs1242418468",
"frequency_reference_population": 0.000006568921,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656892,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1383204460144043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0399,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.113,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152272.5",
"gene_symbol": "CHMP7",
"hgnc_id": 28439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}