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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: 2-210675783-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210675783&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPS1",
"hgnc_id": 2323,
"hgvs_c": "c.4250C>A",
"hgvs_p": "p.Thr1417Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001369256.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 499109,
"alphamissense_prediction": null,
"alphamissense_score": 0.0854,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": " neonatal, susceptibility to, type I,CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM,Congenital hyperammonemia,Pulmonary hypertension,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003946036100387573,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 4352,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001875.5",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233072.10",
"protein_coding": true,
"protein_id": "NP_001866.2",
"strand": true,
"transcript": "NM_001875.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 4352,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000233072.10",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001875.5",
"protein_coding": true,
"protein_id": "ENSP00000233072.5",
"strand": true,
"transcript": "ENST00000233072.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "T",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5723,
"cdna_start": 4317,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4235,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000430249.7",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4235C>A",
"hgvs_p": "p.Thr1412Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402608.2",
"strand": true,
"transcript": "ENST00000430249.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "T",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2864,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000451903.3",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.2864C>A",
"hgvs_p": "p.Thr955Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406136.2",
"strand": true,
"transcript": "ENST00000451903.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4811,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000479988.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "n.3403C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000479988.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "T",
"aa_start": 1429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5828,
"cdna_start": 4421,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4286,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000881564.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4286C>A",
"hgvs_p": "p.Thr1429Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551623.1",
"strand": true,
"transcript": "ENST00000881564.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "T",
"aa_start": 1417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5707,
"cdna_start": 4299,
"cds_end": null,
"cds_length": 4536,
"cds_start": 4250,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001369256.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4250C>A",
"hgvs_p": "p.Thr1417Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356185.1",
"strand": true,
"transcript": "NM_001369256.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 4314,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001122633.3",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116105.2",
"strand": true,
"transcript": "NM_001122633.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": 4434,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001369257.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356186.1",
"strand": true,
"transcript": "NM_001369257.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000673510.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500537.1",
"strand": true,
"transcript": "ENST00000673510.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5775,
"cdna_start": 4551,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000673630.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501073.1",
"strand": true,
"transcript": "ENST00000673630.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5698,
"cdna_start": 4290,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000673711.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501022.1",
"strand": true,
"transcript": "ENST00000673711.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 4665,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000881558.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551617.1",
"strand": true,
"transcript": "ENST00000881558.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 4274,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000881559.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551618.1",
"strand": true,
"transcript": "ENST00000881559.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5818,
"cdna_start": 4412,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000881560.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551619.1",
"strand": true,
"transcript": "ENST00000881560.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5968,
"cdna_start": 4562,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000881561.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551620.1",
"strand": true,
"transcript": "ENST00000881561.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 4746,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000881562.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551621.1",
"strand": true,
"transcript": "ENST00000881562.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 4362,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000881563.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551622.1",
"strand": true,
"transcript": "ENST00000881563.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 4372,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000921372.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591431.1",
"strand": true,
"transcript": "ENST00000921372.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5430,
"cdna_start": 4678,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4217,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000921373.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.4217C>A",
"hgvs_p": "p.Thr1406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591432.1",
"strand": true,
"transcript": "ENST00000921373.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5952,
"cdna_start": 4548,
"cds_end": null,
"cds_length": 4503,
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