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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: 9-126917654-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=126917654&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 126917654,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000259351.10",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2679G>A",
"hgvs_p": null,
"transcript": "NM_014636.3",
"protein_id": "NP_055451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": "ENST00000259351.10",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2679G>A",
"hgvs_p": null,
"transcript": "ENST00000259351.10",
"protein_id": "ENSP00000259351.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": "NM_014636.3",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2642G>A",
"hgvs_p": null,
"transcript": "ENST00000373436.5",
"protein_id": "ENSP00000362535.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2642G>A",
"hgvs_p": null,
"transcript": "ENST00000394011.7",
"protein_id": "ENSP00000377579.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 819,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2642G>A",
"hgvs_p": null,
"transcript": "NM_001322325.2",
"protein_id": "NP_001309254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2931,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2642G>A",
"hgvs_p": null,
"transcript": "NM_001322321.2",
"protein_id": "NP_001309250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2642G>A",
"hgvs_p": null,
"transcript": "NM_001322322.2",
"protein_id": "NP_001309251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
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"cdna_start": null,
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"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2161G>A",
"hgvs_p": null,
"transcript": "NM_001366400.1",
"protein_id": "NP_001353329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6191,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.-66+2642G>A",
"hgvs_p": null,
"transcript": "NM_001190729.2",
"protein_id": "NP_001177658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
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"cds_length": 1614,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "RALGPS1",
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"hgvs_c": "c.-66+2679G>A",
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"transcript": "NM_001322320.2",
"protein_id": "NP_001309249.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RALGPS1",
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"hgvs_c": "c.-66+2642G>A",
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"transcript": "ENST00000424082.6",
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},
{
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],
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},
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],
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"gene_symbol": "RALGPS1",
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},
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],
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"gene_symbol": "RALGPS1",
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},
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],
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},
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],
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"gene_symbol": "RALGPS1",
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"hgvs_c": "n.208+2657G>A",
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],
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"gene_symbol": "RALGPS1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "RALGPS1",
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"transcript": "XM_047424114.1",
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},
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "RALGPS1",
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"hgvs_c": "c.-66+2178G>A",
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