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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: 2-199850043-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=199850043&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 199850043,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000420128.6",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
"hgvs_p": null,
"transcript": "NM_001363886.2",
"protein_id": "NP_001350815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": "ENST00000420128.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
"hgvs_p": null,
"transcript": "ENST00000420128.6",
"protein_id": "ENSP00000457780.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": "NM_001363886.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
"hgvs_p": null,
"transcript": "ENST00000622774.2",
"protein_id": "ENSP00000482786.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
"hgvs_p": null,
"transcript": "ENST00000416668.5",
"protein_id": "ENSP00000454447.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
"hgvs_p": null,
"transcript": "NM_001350853.2",
"protein_id": "NP_001337782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+716G>T",
"hgvs_p": null,
"transcript": "NM_001350854.2",
"protein_id": "NP_001337783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+716G>T",
"hgvs_p": null,
"transcript": "ENST00000420922.6",
"protein_id": "ENSP00000456442.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+716G>T",
"hgvs_p": null,
"transcript": "ENST00000703582.1",
"protein_id": "ENSP00000515385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
"hgvs_p": null,
"transcript": "NM_001350855.2",
"protein_id": "NP_001337784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+697G>T",
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"transcript": "XM_047444160.1",
"protein_id": "XP_047300116.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "FTCDNL1",
"gene_hgnc_id": 48661,
"hgvs_c": "c.-8+1029G>T",
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"transcript": "XM_047444161.1",
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},
{
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],
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},
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],
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"gene_symbol": "FTCDNL1",
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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": "FTCDNL1",
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"hgvs_c": "c.-8+1029G>T",
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"transcript": "XM_047444164.1",
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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": "FTCDNL1",
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