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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: 2-20728282-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=20728282&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 20728282,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000237822.8",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.703+11689A>T",
"hgvs_p": null,
"transcript": "NM_021925.4",
"protein_id": "NP_068744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": "ENST00000237822.8",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.703+11689A>T",
"hgvs_p": null,
"transcript": "ENST00000237822.8",
"protein_id": "ENSP00000237822.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": "NM_021925.4",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.703+11689A>T",
"hgvs_p": null,
"transcript": "ENST00000381090.7",
"protein_id": "ENSP00000370480.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2045,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.577+11689A>T",
"hgvs_p": null,
"transcript": "NM_001282719.2",
"protein_id": "NP_001269648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3791,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.577+11689A>T",
"hgvs_p": null,
"transcript": "ENST00000435420.6",
"protein_id": "ENSP00000388635.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3837,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.559+11689A>T",
"hgvs_p": null,
"transcript": "NM_001282720.2",
"protein_id": "NP_001269649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3773,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.559+11689A>T",
"hgvs_p": null,
"transcript": "ENST00000626491.2",
"protein_id": "ENSP00000487592.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1179,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.313+11689A>T",
"hgvs_p": null,
"transcript": "ENST00000403006.6",
"protein_id": "ENSP00000384267.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1895,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.313+11689A>T",
"hgvs_p": null,
"transcript": "NM_001282721.2",
"protein_id": "NP_001269650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.313+11689A>T",
"hgvs_p": null,
"transcript": "NM_001282722.2",
"protein_id": "NP_001269651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.313+11689A>T",
"hgvs_p": null,
"transcript": "ENST00000541941.5",
"protein_id": "ENSP00000440570.1",
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"transcript": "ENST00000619656.4",
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},
{
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],
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"gene_symbol": "LDAH",
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"hgvs_c": "c.469-26630A>T",
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"transcript": "NM_001282723.2",
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},
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],
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"gene_symbol": "LDAH",
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"hgvs_c": "c.469-26630A>T",
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"transcript": "ENST00000440866.6",
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},
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],
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"transcript": "ENST00000432947.1",
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},
{
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],
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"exon_count": 5,
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"gene_symbol": "LDAH",
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"hgvs_c": "c.343-26630A>T",
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},
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],
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},
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],
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"gene_symbol": "LDAH",
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"hgvs_c": "n.380-26630A>T",
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"transcript": "NR_104233.2",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "LDAH",
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"hgvs_c": "c.721+11689A>T",
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"transcript": "XM_011533014.3",
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},
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],
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],
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},
{
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],
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "n.770+11689A>T",
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},
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