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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: 2-172957934-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172957934&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172957934,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000397081.8",
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.538-2826G>A",
"hgvs_p": null,
"transcript": "NM_007023.4",
"protein_id": "NP_008954.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "ENST00000397081.8",
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.538-2826G>A",
"hgvs_p": null,
"transcript": "ENST00000397081.8",
"protein_id": "ENSP00000380271.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "NM_007023.4",
"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": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.538-2826G>A",
"hgvs_p": null,
"transcript": "ENST00000409036.5",
"protein_id": "ENSP00000387104.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": -4,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3975,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.106-2826G>A",
"hgvs_p": null,
"transcript": "ENST00000397087.7",
"protein_id": "ENSP00000380276.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4120,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.508-2826G>A",
"hgvs_p": null,
"transcript": "NM_001375864.1",
"protein_id": "NP_001362793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": -4,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4678,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.538-2826G>A",
"hgvs_p": null,
"transcript": "NM_001375865.1",
"protein_id": "NP_001362794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1000,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4268,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.538-3188G>A",
"hgvs_p": null,
"transcript": "NM_001375866.1",
"protein_id": "NP_001362795.1",
"transcript_support_level": null,
"aa_start": 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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"biotype": null,
"feature": null
},
{
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"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": 4,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.445-2826G>A",
"hgvs_p": null,
"transcript": "NM_001375867.1",
"protein_id": "NP_001362796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4208,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.538-2826G>A",
"hgvs_p": null,
"transcript": "NM_001375868.1",
"protein_id": "NP_001362797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "RAPGEF4",
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"hgvs_c": "c.538-2826G>A",
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"transcript": "NM_001375869.1",
"protein_id": "NP_001362798.1",
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},
{
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],
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"gene_symbol": "RAPGEF4",
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{
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],
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],
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"gene_symbol": "RAPGEF4",
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],
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"gene_symbol": "RAPGEF4",
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],
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