← Back to variant description
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: 5-87379775-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=87379775&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 87379775,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000274376.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2528C>A",
"hgvs_p": "p.Thr843Asn",
"transcript": "NM_002890.3",
"protein_id": "NP_002881.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2528,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": "ENST00000274376.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2528C>A",
"hgvs_p": "p.Thr843Asn",
"transcript": "ENST00000274376.11",
"protein_id": "ENSP00000274376.6",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2528,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": "NM_002890.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.1997C>A",
"hgvs_p": "p.Thr666Asn",
"transcript": "ENST00000456692.6",
"protein_id": "ENSP00000411221.2",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 870,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "n.*1053C>A",
"hgvs_p": null,
"transcript": "ENST00000515800.6",
"protein_id": "ENSP00000423395.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "n.*1053C>A",
"hgvs_p": null,
"transcript": "ENST00000515800.6",
"protein_id": "ENSP00000423395.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2030C>A",
"hgvs_p": "p.Thr677Asn",
"transcript": "ENST00000506290.1",
"protein_id": "ENSP00000420905.1",
"transcript_support_level": 2,
"aa_start": 677,
"aa_end": null,
"aa_length": 881,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2027C>A",
"hgvs_p": "p.Thr676Asn",
"transcript": "ENST00000512763.5",
"protein_id": "ENSP00000422008.1",
"transcript_support_level": 2,
"aa_start": 676,
"aa_end": null,
"aa_length": 880,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.1997C>A",
"hgvs_p": "p.Thr666Asn",
"transcript": "NM_022650.3",
"protein_id": "NP_072179.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 870,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "c.933+15269G>T",
"hgvs_p": null,
"transcript": "NM_001364075.2",
"protein_id": "NP_001351004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.*90+12995G>T",
"hgvs_p": null,
"transcript": "ENST00000645953.1",
"protein_id": "ENSP00000494460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.*91-3257G>T",
"hgvs_p": null,
"transcript": "ENST00000646883.1",
"protein_id": "ENSP00000493789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.1447+12995G>T",
"hgvs_p": null,
"transcript": "NR_157068.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.1040+12995G>T",
"hgvs_p": null,
"transcript": "NR_157069.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.1204+12995G>T",
"hgvs_p": null,
"transcript": "NR_157070.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"dbsnp": "rs184201084",
"frequency_reference_population": 0.00045638203,
"hom_count_reference_population": 9,
"allele_count_reference_population": 736,
"gnomad_exomes_af": 0.000436858,
"gnomad_genomes_af": 0.000643653,
"gnomad_exomes_ac": 638,
"gnomad_genomes_ac": 98,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008597970008850098,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.103,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.548,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000274376.11",
"gene_symbol": "RASA1",
"hgnc_id": 9871,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2528C>A",
"hgvs_p": "p.Thr843Asn"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001364075.2",
"gene_symbol": "CCNH",
"hgnc_id": 1594,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.933+15269G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Capillary malformation-arteriovenous malformation 1,Capillary malformation-arteriovenous malformation syndrome,Cardiovascular phenotype,Parkes Weber syndrome,RASA1-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3",
"phenotype_combined": "Capillary malformation-arteriovenous malformation 1|Parkes Weber syndrome|not provided|Cardiovascular phenotype|RASA1-related disorder|Capillary malformation-arteriovenous malformation syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}