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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: 2-206145046-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206145046&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206145046,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001199984.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "NM_005006.7",
"protein_id": "NP_004997.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233190.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005006.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000233190.11",
"protein_id": "ENSP00000233190.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005006.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233190.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.780-20A>T",
"hgvs_p": null,
"transcript": "NM_001199984.2",
"protein_id": "NP_001186913.1",
"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": "NM_001199984.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000903706.1",
"protein_id": "ENSP00000573765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000449699.5",
"protein_id": "ENSP00000399912.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449699.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000903708.1",
"protein_id": "ENSP00000573767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000903709.1",
"protein_id": "ENSP00000573768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000938122.1",
"protein_id": "ENSP00000608181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000938124.1",
"protein_id": "ENSP00000608183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
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"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938124.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000948901.1",
"protein_id": "ENSP00000618960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
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"cds_length": 2184,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948901.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000948907.1",
"protein_id": "ENSP00000618966.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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],
"exon_rank": null,
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"exon_count": 19,
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"gene_symbol": "NDUFS1",
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"hgvs_c": "c.738-20A>T",
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"transcript": "ENST00000903702.1",
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"feature": "ENST00000903702.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NDUFS1",
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"hgvs_c": "c.738-20A>T",
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"cdna_start": null,
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},
{
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],
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"gene_symbol": "NDUFS1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NDUFS1",
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"hgvs_c": "c.738-20A>T",
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"transcript": "ENST00000903704.1",
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},
{
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NDUFS1",
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"hgvs_c": "c.738-20A>T",
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"transcript": "ENST00000903701.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
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"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000948906.1",
"protein_id": "ENSP00000618965.1",
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},
{
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"strand": false,
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],
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"intron_rank": 7,
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"gene_symbol": "NDUFS1",
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"hgvs_c": "c.630-20A>T",
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},
{
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],
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"gene_symbol": "NDUFS1",
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},
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],
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"gene_symbol": "NDUFS1",
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"transcript": "ENST00000903700.1",
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"biotype": "protein_coding",
"feature": "ENST00000903700.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.738-20A>T",
"hgvs_p": null,
"transcript": "ENST00000903705.1",
"protein_id": "ENSP00000573764.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000903705.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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{
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"BP6"
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],
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}