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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: 9-114007235-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114007235&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114007235,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000374126.10",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.551-115C>T",
"hgvs_p": null,
"transcript": "NM_001318042.2",
"protein_id": "NP_001304971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9363,
"mane_select": "ENST00000374126.10",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.551-115C>T",
"hgvs_p": null,
"transcript": "ENST00000374126.10",
"protein_id": "ENSP00000363241.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9363,
"mane_select": "NM_001318042.2",
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "ENST00000615615.4",
"protein_id": "ENSP00000483198.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9289,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "NM_001318041.2",
"protein_id": "NP_001304970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": -4,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9267,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "NM_001318040.2",
"protein_id": "NP_001304969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9264,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "NM_133374.3",
"protein_id": "NP_588615.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 861,
"cds_start": -4,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
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"cdna_length": 9084,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "ENST00000288466.11",
"protein_id": "ENSP00000288466.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 861,
"cds_start": -4,
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"cds_length": 2586,
"cdna_start": null,
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"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "ENST00000374124.4",
"protein_id": "ENSP00000363239.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1156,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF618",
"gene_hgnc_id": 29416,
"hgvs_c": "c.455-115C>T",
"hgvs_p": null,
"transcript": "ENST00000452710.5",
"protein_id": "ENSP00000395400.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 911,
"cdna_start": null,
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"cdna_length": 942,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "ZNF618",
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"hgvs_c": "n.454-115C>T",
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"transcript": "ENST00000481558.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 6,
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"gene_symbol": "ZNF618",
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"hgvs_c": "c.551-115C>T",
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"transcript": "XM_005251692.4",
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{
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],
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],
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],
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],
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],
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},
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],
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"gene_symbol": "ZNF618",
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"hgvs_c": "c.551-115C>T",
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}