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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: 19-1041165-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1041165&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1041165,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000263094.11",
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-137-60C>T",
"hgvs_p": null,
"transcript": "NM_019112.4",
"protein_id": "NP_061985.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": -4,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": "ENST00000263094.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-137-60C>T",
"hgvs_p": null,
"transcript": "ENST00000263094.11",
"protein_id": "ENSP00000263094.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": -4,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": "NM_019112.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.201-60C>T",
"hgvs_p": null,
"transcript": "ENST00000433129.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.80-60C>T",
"hgvs_p": null,
"transcript": "ENST00000525238.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.95-60C>T",
"hgvs_p": null,
"transcript": "ENST00000526885.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-7-190C>T",
"hgvs_p": null,
"transcript": "ENST00000524850.5",
"protein_id": "ENSP00000431473.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "n.82-60C>T",
"hgvs_p": null,
"transcript": "ENST00000530703.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-7-190C>T",
"hgvs_p": null,
"transcript": "XM_047438044.1",
"protein_id": "XP_047294000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": -4,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-137-60C>T",
"hgvs_p": null,
"transcript": "XM_047438045.1",
"protein_id": "XP_047294001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
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"cdna_length": 6788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-137-60C>T",
"hgvs_p": null,
"transcript": "XM_006722616.2",
"protein_id": "XP_006722679.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 1,
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"gene_symbol": "ABCA7",
"gene_hgnc_id": 37,
"hgvs_c": "c.-7-190C>T",
"hgvs_p": null,
"transcript": "XM_047438046.1",
"protein_id": "XP_047294002.1",
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"aa_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "ABCA7",
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},
{
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],
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"gene_symbol": "ABCA7",
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],
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"gene_symbol": "ABCA7",
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},
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],
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},
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],
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"gene_symbol": "ABCA7",
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],
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"hgvs_c": "c.-137-60C>T",
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"transcript": "XM_047438053.1",
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],
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"intron_rank": 1,
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"gene_symbol": "ABCA7",
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],
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},
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],
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"gene_symbol": "ABCA7",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 1,
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"gene_symbol": "ABCA7",
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"hgvs_c": "n.91-60C>T",
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"transcript": "XR_936149.2",
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},
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{
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"verdict": "Benign",
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"inheritance_mode": "Unknown",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}