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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: 7-117652877-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117652877&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFTR",
"hgnc_id": 1884,
"hgvs_c": "c.3909C>G",
"hgvs_p": "p.Asn1303Lys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000492.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP3,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 252,
"alphamissense_prediction": null,
"alphamissense_score": 0.9907,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 2, Y-linked,Bronchiectasis with or without elevated sweat chloride 1,CFTR-related disorder,Congenital bilateral aplasia of vas deferens from CFTR mutation,Cystic fibrosis,Hereditary pancreatitis,Spermatogenic failure,not provided",
"clinvar_review_status": "practice guideline",
"clinvar_submissions_summary": "P:32 US:1 O:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7782062292098999,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "N",
"aa_start": 1303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 3979,
"cds_end": null,
"cds_length": 4443,
"cds_start": 3909,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_000492.4",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3909C>G",
"hgvs_p": "p.Asn1303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000003084.11",
"protein_coding": true,
"protein_id": "NP_000483.3",
"strand": true,
"transcript": "NM_000492.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "N",
"aa_start": 1303,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 3979,
"cds_end": null,
"cds_length": 4443,
"cds_start": 3909,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000003084.11",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3909C>G",
"hgvs_p": "p.Asn1303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000492.4",
"protein_coding": true,
"protein_id": "ENSP00000003084.6",
"strand": true,
"transcript": "ENST00000003084.11",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "N",
"aa_start": 1301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 4010,
"cds_end": null,
"cds_length": 4437,
"cds_start": 3903,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699602.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3903C>G",
"hgvs_p": "p.Asn1301Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514471.1",
"strand": true,
"transcript": "ENST00000699602.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "N",
"aa_start": 1274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 3937,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3822,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889206.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3822C>G",
"hgvs_p": "p.Asn1274Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559265.1",
"strand": true,
"transcript": "ENST00000889206.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "N",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 3819,
"cds_end": null,
"cds_length": 4316,
"cds_start": 3819,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000426809.5",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3819C>G",
"hgvs_p": "p.Asn1273Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389119.1",
"strand": true,
"transcript": "ENST00000426809.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "N",
"aa_start": 1260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": 3850,
"cds_end": null,
"cds_length": 4314,
"cds_start": 3780,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889208.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3780C>G",
"hgvs_p": "p.Asn1260Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559267.1",
"strand": true,
"transcript": "ENST00000889208.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "N",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5824,
"cdna_start": 3810,
"cds_end": null,
"cds_length": 4260,
"cds_start": 3726,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000649781.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3726C>G",
"hgvs_p": "p.Asn1242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497203.1",
"strand": true,
"transcript": "ENST00000649781.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1376,
"aa_ref": "N",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 3667,
"cds_end": null,
"cds_length": 4131,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889210.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3597C>G",
"hgvs_p": "p.Asn1199Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559269.1",
"strand": true,
"transcript": "ENST00000889210.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "N",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 3629,
"cds_end": null,
"cds_length": 4065,
"cds_start": 3531,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889207.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3531C>G",
"hgvs_p": "p.Asn1177Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559266.1",
"strand": true,
"transcript": "ENST00000889207.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "N",
"aa_start": 1161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 3905,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3483,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699605.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3483C>G",
"hgvs_p": "p.Asn1161Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514473.1",
"strand": true,
"transcript": "ENST00000699605.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "N",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 3010,
"cds_end": null,
"cds_length": 3408,
"cds_start": 2874,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000950799.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.2874C>G",
"hgvs_p": "p.Asn958Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620858.1",
"strand": true,
"transcript": "ENST00000950799.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 279,
"aa_ref": "N",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 491,
"cds_end": null,
"cds_length": 840,
"cds_start": 489,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000689011.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.489C>G",
"hgvs_p": "p.Asn163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510587.1",
"strand": true,
"transcript": "ENST00000689011.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 155,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 35,
"cds_end": null,
"cds_length": 468,
"cds_start": 33,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000600166.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.33C>G",
"hgvs_p": "p.Asn11Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470177.1",
"strand": true,
"transcript": "ENST00000600166.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": null,
"cds_end": null,
"cds_length": 4353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889209.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3873+10284C>G",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559268.1",
"strand": true,
"transcript": "ENST00000889209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000647720.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*118C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497673.2",
"strand": true,
"transcript": "ENST00000647720.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000647978.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*3623C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497658.1",
"strand": true,
"transcript": "ENST00000647978.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000685018.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*122C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510194.2",
"strand": true,
"transcript": "ENST00000685018.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000687278.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*562C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509593.2",
"strand": true,
"transcript": "ENST00000687278.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699585.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*118C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514456.1",
"strand": true,
"transcript": "ENST00000699585.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699598.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.3909C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514467.1",
"strand": true,
"transcript": "ENST00000699598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
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}