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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: 2-210477765-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210477765&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 210477765,
"ref": "T",
"alt": "C",
"effect": "start_lost,splice_region_variant",
"transcript": "ENST00000430249.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000430249.7",
"protein_id": "ENSP00000402608.2",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 1506,
"cds_start": 2,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430249.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-17T>C",
"hgvs_p": null,
"transcript": "NM_001122633.3",
"protein_id": "NP_001116105.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122633.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-137T>C",
"hgvs_p": null,
"transcript": "NM_001369257.1",
"protein_id": "NP_001356186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-137T>C",
"hgvs_p": null,
"transcript": "ENST00000673510.1",
"protein_id": "ENSP00000500537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-251T>C",
"hgvs_p": null,
"transcript": "ENST00000673630.1",
"protein_id": "ENSP00000501073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-17T>C",
"hgvs_p": null,
"transcript": "ENST00000673711.1",
"protein_id": "ENSP00000501022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-105T>C",
"hgvs_p": null,
"transcript": "ENST00000921372.1",
"protein_id": "ENSP00000591431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-379T>C",
"hgvs_p": null,
"transcript": "ENST00000921373.1",
"protein_id": "ENSP00000591432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-265T>C",
"hgvs_p": null,
"transcript": "ENST00000965726.1",
"protein_id": "ENSP00000635785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-17T>C",
"hgvs_p": null,
"transcript": "NM_001122633.3",
"protein_id": "NP_001116105.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122633.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-137T>C",
"hgvs_p": null,
"transcript": "NM_001369257.1",
"protein_id": "NP_001356186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-137T>C",
"hgvs_p": null,
"transcript": "ENST00000673510.1",
"protein_id": "ENSP00000500537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-251T>C",
"hgvs_p": null,
"transcript": "ENST00000673630.1",
"protein_id": "ENSP00000501073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-17T>C",
"hgvs_p": null,
"transcript": "ENST00000673711.1",
"protein_id": "ENSP00000501022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-105T>C",
"hgvs_p": null,
"transcript": "ENST00000921372.1",
"protein_id": "ENSP00000591431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-379T>C",
"hgvs_p": null,
"transcript": "ENST00000921373.1",
"protein_id": "ENSP00000591432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.-265T>C",
"hgvs_p": null,
"transcript": "ENST00000965726.1",
"protein_id": "ENSP00000635785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LANCL1",
"gene_hgnc_id": 6508,
"hgvs_c": "c.-332A>G",
"hgvs_p": null,
"transcript": "ENST00000448951.6",
"protein_id": "ENSP00000396518.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448951.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LANCL1",
"gene_hgnc_id": 6508,
"hgvs_c": "c.-265A>G",
"hgvs_p": null,
"transcript": "ENST00000915319.1",
"protein_id": "ENSP00000585378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
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"cds_length": 1200,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000915319.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LANCL1",
"gene_hgnc_id": 6508,
"hgvs_c": "c.-332A>G",
"hgvs_p": null,
"transcript": "ENST00000961902.1",
"protein_id": "ENSP00000631961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961902.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LANCL1",
"gene_hgnc_id": 6508,
"hgvs_c": "c.-296A>G",
"hgvs_p": null,
"transcript": "XM_005246243.3",
"protein_id": "XP_005246300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246243.3"
}
],
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"dbsnp": "rs763703546",
"frequency_reference_population": 0.0000068435497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684355,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9305669665336609,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.17,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": 0.000119512054811162,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000430249.7",
"gene_symbol": "CPS1",
"hgnc_id": 2323,
"effects": [
"start_lost",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000448951.6",
"gene_symbol": "LANCL1",
"hgnc_id": 6508,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-332A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}