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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: 7-117642491-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117642491&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117642491,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000492.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3771T>G",
"hgvs_p": "p.Phe1257Leu",
"transcript": "NM_000492.4",
"protein_id": "NP_000483.3",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1480,
"cds_start": 3771,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000003084.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000492.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3771T>G",
"hgvs_p": "p.Phe1257Leu",
"transcript": "ENST00000003084.11",
"protein_id": "ENSP00000003084.6",
"transcript_support_level": 1,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1480,
"cds_start": 3771,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000492.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000003084.11"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3765T>G",
"hgvs_p": "p.Phe1255Leu",
"transcript": "ENST00000699602.1",
"protein_id": "ENSP00000514471.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1478,
"cds_start": 3765,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699602.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3684T>G",
"hgvs_p": "p.Phe1228Leu",
"transcript": "ENST00000889206.1",
"protein_id": "ENSP00000559265.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3684,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889206.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3771T>G",
"hgvs_p": "p.Phe1257Leu",
"transcript": "ENST00000889209.1",
"protein_id": "ENSP00000559268.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3771,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889209.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3681T>G",
"hgvs_p": "p.Phe1227Leu",
"transcript": "ENST00000426809.5",
"protein_id": "ENSP00000389119.1",
"transcript_support_level": 5,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3681,
"cds_end": null,
"cds_length": 4316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426809.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3642T>G",
"hgvs_p": "p.Phe1214Leu",
"transcript": "ENST00000889208.1",
"protein_id": "ENSP00000559267.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3642,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889208.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3588T>G",
"hgvs_p": "p.Phe1196Leu",
"transcript": "ENST00000649781.2",
"protein_id": "ENSP00000497203.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649781.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3459T>G",
"hgvs_p": "p.Phe1153Leu",
"transcript": "ENST00000889210.1",
"protein_id": "ENSP00000559269.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3459,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889210.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3393T>G",
"hgvs_p": "p.Phe1131Leu",
"transcript": "ENST00000889207.1",
"protein_id": "ENSP00000559266.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3393,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889207.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.3345T>G",
"hgvs_p": "p.Phe1115Leu",
"transcript": "ENST00000699605.1",
"protein_id": "ENSP00000514473.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3345,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699605.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.2736T>G",
"hgvs_p": "p.Phe912Leu",
"transcript": "ENST00000950799.1",
"protein_id": "ENSP00000620858.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2736,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950799.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "c.351T>G",
"hgvs_p": "p.Phe117Leu",
"transcript": "ENST00000689011.1",
"protein_id": "ENSP00000510587.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 279,
"cds_start": 351,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.3571T>G",
"hgvs_p": null,
"transcript": "ENST00000647720.2",
"protein_id": "ENSP00000497673.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647720.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*3485T>G",
"hgvs_p": null,
"transcript": "ENST00000647978.2",
"protein_id": "ENSP00000497658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647978.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.3771T>G",
"hgvs_p": null,
"transcript": "ENST00000685018.2",
"protein_id": "ENSP00000510194.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685018.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*424T>G",
"hgvs_p": null,
"transcript": "ENST00000687278.2",
"protein_id": "ENSP00000509593.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687278.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.3571T>G",
"hgvs_p": null,
"transcript": "ENST00000699585.1",
"protein_id": "ENSP00000514456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.3771T>G",
"hgvs_p": null,
"transcript": "ENST00000699598.1",
"protein_id": "ENSP00000514467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.3771T>G",
"hgvs_p": null,
"transcript": "ENST00000699599.1",
"protein_id": "ENSP00000514468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*432T>G",
"hgvs_p": null,
"transcript": "ENST00000699600.1",
"protein_id": "ENSP00000514469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFTR",
"gene_hgnc_id": 1884,
"hgvs_c": "n.*2146T>G",
"hgvs_p": null,
"transcript": "ENST00000699601.1",
"protein_id": "ENSP00000514470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
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"BP4",
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"verdict": "Uncertain_significance",
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{
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{
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],
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:1",
"phenotype_combined": "Cystic fibrosis",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}