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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: 3-76425934-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=76425934&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 76425934,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001394212.1",
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.130+114517G>T",
"hgvs_p": null,
"transcript": "NM_001394212.1",
"protein_id": "NP_001381141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8922,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.109+488332G>T",
"hgvs_p": null,
"transcript": "NM_001378191.1",
"protein_id": "NP_001365120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8804,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.109+488332G>T",
"hgvs_p": null,
"transcript": "ENST00000696630.1",
"protein_id": "ENSP00000512767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5618,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.130+114517G>T",
"hgvs_p": null,
"transcript": "NM_001378192.1",
"protein_id": "NP_001365121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1496,
"cds_start": -4,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8808,
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.109+488332G>T",
"hgvs_p": null,
"transcript": "NM_001378190.1",
"protein_id": "NP_001365119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
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"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8678,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.130+114517G>T",
"hgvs_p": null,
"transcript": "NM_001394213.1",
"protein_id": "NP_001381142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
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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": 28,
"intron_rank": 1,
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"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.130+114517G>T",
"hgvs_p": null,
"transcript": "NM_001378194.1",
"protein_id": "NP_001365123.1",
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"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.130+114517G>T",
"hgvs_p": null,
"transcript": "NM_001395657.1",
"protein_id": "NP_001382586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ROBO2",
"gene_hgnc_id": 10250,
"hgvs_c": "c.109+488332G>T",
"hgvs_p": null,
"transcript": "NM_001378195.1",
"protein_id": "NP_001365124.1",
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},
{
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],
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