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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-110688709-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=110688709&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 110688709,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001143981.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "NM_001143981.2",
"protein_id": "NP_001137453.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 458,
"cds_start": 872,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372042.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143981.2"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000372042.6",
"protein_id": "ENSP00000361112.1",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 458,
"cds_start": 872,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143981.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372042.6"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "ENST00000444321.2",
"protein_id": "ENSP00000399739.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 457,
"cds_start": 869,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444321.2"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.851delG",
"hgvs_p": "p.Cys284fs",
"transcript": "ENST00000372045.5",
"protein_id": "ENSP00000361115.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 450,
"cds_start": 851,
"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": "ENST00000372045.5"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "NM_001367204.1",
"protein_id": "NP_001354133.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 458,
"cds_start": 872,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367204.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000881327.1",
"protein_id": "ENSP00000551386.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 458,
"cds_start": 872,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881327.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000944294.1",
"protein_id": "ENSP00000614353.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 458,
"cds_start": 872,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944294.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "NM_001143982.2",
"protein_id": "NP_001137454.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 457,
"cds_start": 869,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143982.2"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "ENST00000881325.1",
"protein_id": "ENSP00000551384.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 457,
"cds_start": 869,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881325.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000881326.1",
"protein_id": "ENSP00000551385.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 457,
"cds_start": 872,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881326.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000881328.1",
"protein_id": "ENSP00000551387.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 457,
"cds_start": 872,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881328.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "NM_145234.4",
"protein_id": "NP_660277.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 456,
"cds_start": 869,
"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_145234.4"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "ENST00000394797.8",
"protein_id": "ENSP00000378276.4",
"transcript_support_level": 5,
"aa_start": 290,
"aa_end": null,
"aa_length": 456,
"cds_start": 869,
"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": "ENST00000394797.8"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "NM_001367205.1",
"protein_id": "NP_001354134.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 453,
"cds_start": 872,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367205.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "NM_001367206.1",
"protein_id": "NP_001354135.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 453,
"cds_start": 872,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367206.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000881324.1",
"protein_id": "ENSP00000551383.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 453,
"cds_start": 872,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881324.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000881329.1",
"protein_id": "ENSP00000551388.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 453,
"cds_start": 872,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881329.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "NM_001367207.1",
"protein_id": "NP_001354136.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 452,
"cds_start": 869,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367207.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "NM_001367208.1",
"protein_id": "NP_001354137.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 452,
"cds_start": 872,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367208.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "ENST00000881330.1",
"protein_id": "ENSP00000551389.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 452,
"cds_start": 869,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881330.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.872delG",
"hgvs_p": "p.Cys291fs",
"transcript": "ENST00000881331.1",
"protein_id": "ENSP00000551390.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 452,
"cds_start": 872,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881331.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.869delG",
"hgvs_p": "p.Cys290fs",
"transcript": "ENST00000932200.1",
"protein_id": "ENSP00000602259.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 452,
"cds_start": 869,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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{
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"verdict": "Pathogenic",
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],
"clinvar_disease": "Megalocornea",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Megalocornea",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}