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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: 18-3993987-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3993987&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3993987,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000315677.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "NM_004746.4",
"protein_id": "NP_004737.2",
"transcript_support_level": null,
"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": 6655,
"mane_select": "ENST00000315677.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "ENST00000315677.8",
"protein_id": "ENSP00000316377.3",
"transcript_support_level": 5,
"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": 6655,
"mane_select": "NM_004746.4",
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "n.324-7771A>G",
"hgvs_p": null,
"transcript": "ENST00000581550.5",
"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": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "NM_001398525.1",
"protein_id": "NP_001385454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "NM_001398526.1",
"protein_id": "NP_001385455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "NM_001398527.1",
"protein_id": "NP_001385456.1",
"transcript_support_level": null,
"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": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "NM_001398528.1",
"protein_id": "NP_001385457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": -4,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "NM_001242761.2",
"protein_id": "NP_001229690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.-73+11129A>G",
"hgvs_p": null,
"transcript": "ENST00000581527.5",
"protein_id": "ENSP00000463864.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3525,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "n.145-7333A>G",
"hgvs_p": null,
"transcript": "ENST00000582051.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.112+785T>C",
"hgvs_p": null,
"transcript": "ENST00000582054.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 796,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.190+785T>C",
"hgvs_p": null,
"transcript": "ENST00000652891.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.126+785T>C",
"hgvs_p": null,
"transcript": "ENST00000661068.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.115+785T>C",
"hgvs_p": null,
"transcript": "ENST00000662697.2",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "DLGAP1-AS4",
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"transcript": "ENST00000662752.3",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "DLGAP1-AS4",
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"hgvs_c": "n.112+785T>C",
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"transcript": "ENST00000662868.2",
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},
{
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],
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"gene_symbol": "DLGAP1-AS4",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.38+785T>C",
"hgvs_p": null,
"transcript": "ENST00000668864.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "DLGAP1-AS4",
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"hgvs_c": "n.423+785T>C",
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"transcript": "ENST00000767594.1",
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},
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],
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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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"intron_rank": 1,
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"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.68+785T>C",
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"transcript": "ENST00000767597.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLGAP1-AS4",
"gene_hgnc_id": 44333,
"hgvs_c": "n.112+785T>C",
"hgvs_p": null,
"transcript": "ENST00000767598.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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}