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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: 22-45503077-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45503077&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 45503077,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_006486.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "NM_006486.3",
"protein_id": "NP_006477.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327858.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006486.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000327858.11",
"protein_id": "ENSP00000331544.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006486.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327858.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000262722.11",
"protein_id": "ENSP00000262722.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262722.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000442170.6",
"protein_id": "ENSP00000393812.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442170.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000340923.9",
"protein_id": "ENSP00000342212.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340923.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869160.1",
"protein_id": "ENSP00000539219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869154.1",
"protein_id": "ENSP00000539213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": null,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869152.1",
"protein_id": "ENSP00000539211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000402984.7",
"protein_id": "ENSP00000385521.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402984.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000920060.1",
"protein_id": "ENSP00000590119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869162.1",
"protein_id": "ENSP00000539221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": null,
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"cds_length": 2130,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869162.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869155.1",
"protein_id": "ENSP00000539214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869155.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000947320.1",
"protein_id": "ENSP00000617379.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 701,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000947320.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
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"transcript": "NM_001996.4",
"protein_id": "NP_001987.3",
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"biotype": "protein_coding",
"feature": "NM_001996.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000947321.1",
"protein_id": "ENSP00000617380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000947321.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "FBLN1",
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"hgvs_c": "c.79+13C>A",
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"transcript": "ENST00000947322.1",
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"biotype": "protein_coding",
"feature": "ENST00000947322.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869151.1",
"protein_id": "ENSP00000539210.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869151.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869157.1",
"protein_id": "ENSP00000539217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000869157.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869164.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "ENST00000869153.1",
"protein_id": "ENSP00000539212.1",
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"feature": "ENST00000869153.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "NM_006485.4",
"protein_id": "NP_006476.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006485.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBLN1",
"gene_hgnc_id": 3600,
"hgvs_c": "c.79+13C>A",
"hgvs_p": null,
"transcript": "NM_006487.3",
"protein_id": "NP_006478.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
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"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006487.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}