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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: 3-190534846-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=190534846&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 190534846,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000447382.6",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-89+20627G>T",
"hgvs_p": null,
"transcript": "NM_002182.4",
"protein_id": "NP_002173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "ENST00000447382.6",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-89+20627G>T",
"hgvs_p": null,
"transcript": "ENST00000447382.6",
"protein_id": "ENSP00000390541.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "NM_002182.4",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-89+20627G>T",
"hgvs_p": null,
"transcript": "ENST00000317757.8",
"protein_id": "ENSP00000314807.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5430,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-2+20627G>T",
"hgvs_p": null,
"transcript": "ENST00000072516.7",
"protein_id": "ENSP00000072516.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4697,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-89+20627G>T",
"hgvs_p": null,
"transcript": "ENST00000422485.5",
"protein_id": "ENSP00000409352.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2048,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-2+20627G>T",
"hgvs_p": null,
"transcript": "ENST00000422940.5",
"protein_id": "ENSP00000387371.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-13126G>T",
"hgvs_p": null,
"transcript": "XM_047448081.1",
"protein_id": "XP_047304037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 32127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-13126G>T",
"hgvs_p": null,
"transcript": "XM_047448082.1",
"protein_id": "XP_047304038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 31359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-13039G>T",
"hgvs_p": null,
"transcript": "XM_047448084.1",
"protein_id": "XP_047304040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"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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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "IL1RAP",
"gene_hgnc_id": 5995,
"hgvs_c": "c.-13126G>T",
"hgvs_p": null,
"transcript": "XM_047448085.1",
"protein_id": "XP_047304041.1",
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"aa_start": null,
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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": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "IL1RAP",
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"hgvs_c": "c.-13126G>T",
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},
{
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],
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},
{
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],
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"gene_symbol": "IL1RAP",
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},
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],
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},
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],
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"hgvs_c": "c.-89+20627G>T",
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"protein_id": "NP_001161403.1",
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},
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],
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],
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"intron_rank": 1,
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"gene_symbol": "IL1RAP",
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},
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],
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"gene_symbol": "IL1RAP",
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],
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],
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},
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"consequences": [
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],
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"gene_symbol": "IL1RAP",
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"hgvs_c": "c.-2+20627G>T",
"hgvs_p": null,
"transcript": "NM_001167930.2",
"protein_id": "NP_001161402.1",
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},
{
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],
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"gene_symbol": "IL1RAP",
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"hgvs_c": "c.-89+20627G>T",
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"transcript": "NM_134470.4",
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