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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: 5-39285201-ATTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=39285201&ref=ATTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 39285201,
"ref": "ATTT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001737.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1675_1677delAAA",
"hgvs_p": "p.Lys559del",
"transcript": "NM_001737.5",
"protein_id": "NP_001728.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263408.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001737.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1675_1677delAAA",
"hgvs_p": "p.Lys559del",
"transcript": "ENST00000263408.5",
"protein_id": "ENSP00000263408.4",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001737.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263408.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1759_1761delAAA",
"hgvs_p": "p.Lys587del",
"transcript": "ENST00000884641.1",
"protein_id": "ENSP00000554700.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 587,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884641.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1675_1677delAAA",
"hgvs_p": "p.Lys559del",
"transcript": "ENST00000884639.1",
"protein_id": "ENSP00000554698.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884639.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1666_1668delAAA",
"hgvs_p": "p.Lys556del",
"transcript": "ENST00000884642.1",
"protein_id": "ENSP00000554701.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 556,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884642.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1603_1605delAAA",
"hgvs_p": "p.Lys535del",
"transcript": "ENST00000509186.6",
"protein_id": "ENSP00000512235.1",
"transcript_support_level": 3,
"aa_start": 535,
"aa_end": null,
"aa_length": 535,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509186.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1546_1548delAAA",
"hgvs_p": "p.Lys516del",
"transcript": "ENST00000695880.1",
"protein_id": "ENSP00000512236.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 516,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695880.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1450_1452delAAA",
"hgvs_p": "p.Lys484del",
"transcript": "ENST00000884640.1",
"protein_id": "ENSP00000554699.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 484,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884640.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1420_1422delAAA",
"hgvs_p": "p.Lys474del",
"transcript": "ENST00000884643.1",
"protein_id": "ENSP00000554702.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 474,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884643.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1324_1326delAAA",
"hgvs_p": "p.Lys442del",
"transcript": "ENST00000884644.1",
"protein_id": "ENSP00000554703.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 442,
"cds_start": 1324,
"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": "ENST00000884644.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.1276_1278delAAA",
"hgvs_p": "p.Lys426del",
"transcript": "ENST00000884646.1",
"protein_id": "ENSP00000554705.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 426,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884646.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.874_876delAAA",
"hgvs_p": "p.Lys292del",
"transcript": "ENST00000884647.1",
"protein_id": "ENSP00000554706.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 292,
"cds_start": 874,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884647.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.778_780delAAA",
"hgvs_p": "p.Lys260del",
"transcript": "ENST00000884645.1",
"protein_id": "ENSP00000554704.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 260,
"cds_start": 778,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "n.*337_*339delAAA",
"hgvs_p": null,
"transcript": "ENST00000695881.1",
"protein_id": "ENSP00000512237.1",
"transcript_support_level": null,
"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": "ENST00000695881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "n.806_808delAAA",
"hgvs_p": null,
"transcript": "ENST00000695882.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000695882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "n.*337_*339delAAA",
"hgvs_p": null,
"transcript": "ENST00000695881.1",
"protein_id": "ENSP00000512237.1",
"transcript_support_level": null,
"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": "ENST00000695881.1"
}
],
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"dbsnp": "rs762159491",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.549,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001737.5",
"gene_symbol": "C9",
"hgnc_id": 1358,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1675_1677delAAA",
"hgvs_p": "p.Lys559del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}