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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: 7-74711703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74711703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74711703,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000573035.6",
"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": 35,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "NM_032999.4",
"protein_id": "NP_127492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "ENST00000573035.6",
"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": 35,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "ENST00000573035.6",
"protein_id": "ENSP00000460070.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "NM_032999.4",
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "ENST00000614986.4",
"protein_id": "ENSP00000484526.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4415,
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "ENST00000621734.4",
"protein_id": "ENSP00000482476.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4412,
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "ENST00000620879.4",
"protein_id": "ENSP00000477837.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4352,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "ENST00000443166.5",
"protein_id": "ENSP00000404240.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF2I-AS1",
"gene_hgnc_id": 55572,
"hgvs_c": "n.385-11323G>A",
"hgvs_p": null,
"transcript": "ENST00000434256.6",
"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": 1682,
"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": 35,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.1246+594C>T",
"hgvs_p": null,
"transcript": "ENST00000650807.1",
"protein_id": "ENSP00000499094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": -4,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4730,
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.1246+594C>T",
"hgvs_p": null,
"transcript": "ENST00000690345.1",
"protein_id": "ENSP00000509776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": -4,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "NM_033000.4",
"protein_id": "NP_127493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
"cds_end": null,
"cds_length": 2937,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GTF2I",
"gene_hgnc_id": 4659,
"hgvs_c": "c.763+594C>T",
"hgvs_p": null,
"transcript": "NM_033001.4",
"protein_id": "NP_127494.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 34,
"intron_rank": 9,
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"gene_symbol": "GTF2I",
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"hgvs_c": "c.763+594C>T",
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"transcript": "NM_001163636.3",
"protein_id": "NP_001157108.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 33,
"intron_rank": 9,
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"gene_symbol": "GTF2I",
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"hgvs_c": "c.763+594C>T",
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"transcript": "NM_001518.5",
"protein_id": "NP_001509.3",
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},
{
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],
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"gene_symbol": "GTF2I",
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"transcript": "NM_001280800.2",
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},
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],
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"gene_symbol": "GTF2I-AS1",
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"hgvs_c": "n.395-11323G>A",
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"transcript": "ENST00000450426.8",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "GTF2I",
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"hgvs_c": "n.164+594C>T",
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"transcript": "ENST00000490431.2",
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},
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],
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"gene_symbol": "GTF2I-AS1",
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"transcript": "ENST00000594967.5",
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},
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],
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"gene_symbol": "GTF2I-AS1",
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"hgvs_c": "n.472+11032G>A",
"hgvs_p": null,
"transcript": "ENST00000601921.1",
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},
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "GTF2I-AS1",
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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": "GTF2I-AS1",
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"hgvs_c": "n.397-11323G>A",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF2I-AS1",
"gene_hgnc_id": 55572,
"hgvs_c": "n.362-11323G>A",
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"transcript": "ENST00000789970.1",
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},
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