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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: 2-147952509-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=147952509&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ORC4",
"hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002552.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4643,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5804280638694763,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6547,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_181741.4",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392857.10",
"protein_coding": true,
"protein_id": "NP_859525.1",
"strand": false,
"transcript": "NM_181741.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6547,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392857.10",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181741.4",
"protein_coding": true,
"protein_id": "ENSP00000376597.5",
"strand": false,
"transcript": "ENST00000392857.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1386,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877934.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547993.1",
"strand": false,
"transcript": "ENST00000877934.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6701,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001190879.3",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177808.1",
"strand": false,
"transcript": "NM_001190879.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6786,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374270.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361199.1",
"strand": false,
"transcript": "NM_001374270.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6572,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002552.5",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002543.2",
"strand": false,
"transcript": "NM_002552.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6546,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_181742.4",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_859526.1",
"strand": false,
"transcript": "NM_181742.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000264169.6",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264169.2",
"strand": false,
"transcript": "ENST00000264169.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6710,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000535373.5",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441953.1",
"strand": false,
"transcript": "ENST00000535373.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000877929.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547988.1",
"strand": false,
"transcript": "ENST00000877929.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000877930.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547989.1",
"strand": false,
"transcript": "ENST00000877930.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877931.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547990.1",
"strand": false,
"transcript": "ENST00000877931.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000877936.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547995.1",
"strand": false,
"transcript": "ENST00000877936.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000877939.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547998.1",
"strand": false,
"transcript": "ENST00000877939.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877941.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548000.1",
"strand": false,
"transcript": "ENST00000877941.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932801.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602860.1",
"strand": false,
"transcript": "ENST00000932801.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1311,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969862.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639921.1",
"strand": false,
"transcript": "ENST00000969862.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 433,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1302,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932802.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602861.1",
"strand": false,
"transcript": "ENST00000932802.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 422,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1269,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932805.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Ser166Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602864.1",
"strand": false,
"transcript": "ENST00000932805.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 407,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1224,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877935.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547994.1",
"strand": false,
"transcript": "ENST00000877935.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 404,
"aa_ref": "S",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1215,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877933.1",
"gene_hgnc_id": 8490,
"gene_symbol": "ORC4",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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