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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: X-48509898-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48509898&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48509898,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001441336.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_203475.3",
"protein_id": "NP_982301.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326194.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203475.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000326194.11",
"protein_id": "ENSP00000322304.6",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203475.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326194.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000355961.8",
"protein_id": "ENSP00000348233.4",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 456,
"cds_start": 78,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355961.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000367574.9",
"protein_id": "ENSP00000356546.6",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 450,
"cds_start": 78,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367574.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000537758.6",
"protein_id": "ENSP00000446401.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 450,
"cds_start": 78,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537758.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Ser",
"transcript": "NM_001441336.1",
"protein_id": "NP_001428265.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 514,
"cds_start": 341,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441336.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Ser",
"transcript": "XM_047442367.1",
"protein_id": "XP_047298323.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 520,
"cds_start": 341,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442367.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.200T>C",
"hgvs_p": "p.Leu67Ser",
"transcript": "XM_047442364.1",
"protein_id": "XP_047298320.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 478,
"cds_start": 200,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442364.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.194T>C",
"hgvs_p": "p.Leu65Ser",
"transcript": "XM_047442365.1",
"protein_id": "XP_047298321.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 476,
"cds_start": 194,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442365.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.200T>C",
"hgvs_p": "p.Leu67Ser",
"transcript": "XM_047442366.1",
"protein_id": "XP_047298322.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 473,
"cds_start": 200,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442366.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.200T>C",
"hgvs_p": "p.Leu67Ser",
"transcript": "XM_047442368.1",
"protein_id": "XP_047298324.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 467,
"cds_start": 200,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442368.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.417T>C",
"hgvs_p": "p.Leu139Leu",
"transcript": "NM_001441333.1",
"protein_id": "NP_001428262.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 569,
"cds_start": 417,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441333.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.417T>C",
"hgvs_p": "p.Leu139Leu",
"transcript": "NM_001441334.1",
"protein_id": "NP_001428263.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 563,
"cds_start": 417,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441334.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.183T>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "NM_001441335.1",
"protein_id": "NP_001428264.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 485,
"cds_start": 183,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441335.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965635.1",
"protein_id": "ENSP00000635694.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965635.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965636.1",
"protein_id": "ENSP00000635695.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965636.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965639.1",
"protein_id": "ENSP00000635698.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965639.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965640.1",
"protein_id": "ENSP00000635699.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965640.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965643.1",
"protein_id": "ENSP00000635702.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965643.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965644.1",
"protein_id": "ENSP00000635703.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965644.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000965647.1",
"protein_id": "ENSP00000635706.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 461,
"cds_start": 78,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965647.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_203473.3",
"protein_id": "NP_982299.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 456,
"cds_start": 78,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203473.3"
},
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.55,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}