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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: 1-224326270-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224326270&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 224326270,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000281701.11",
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "NM_002533.4",
"protein_id": "NP_002524.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": "ENST00000281701.11",
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "ENST00000281701.11",
"protein_id": "ENSP00000281701.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": "NM_002533.4",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.-188+3801A>G",
"hgvs_p": null,
"transcript": "ENST00000391875.6",
"protein_id": "ENSP00000375747.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2832,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "NM_001243147.2",
"protein_id": "NP_001230076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "ENST00000469075.5",
"protein_id": "ENSP00000417826.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2566,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.-188+3801A>G",
"hgvs_p": null,
"transcript": "NM_206840.3",
"protein_id": "NP_996671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2823,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.-187+3801A>G",
"hgvs_p": null,
"transcript": "NM_001243146.2",
"protein_id": "NP_001230075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2573,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.-187+3801A>G",
"hgvs_p": null,
"transcript": "ENST00000340871.8",
"protein_id": "ENSP00000341362.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2431,
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.-518+121A>G",
"hgvs_p": null,
"transcript": "ENST00000482491.5",
"protein_id": "ENSP00000417213.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3003,
"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": 21,
"intron_rank": 1,
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"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.-188+3801A>G",
"hgvs_p": null,
"transcript": "ENST00000469968.5",
"protein_id": "ENSP00000419420.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
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"cds_length": 1980,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "ENST00000488718.5",
"protein_id": "ENSP00000419828.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 183,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "NVL",
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"hgvs_c": "c.57+3801A>G",
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"transcript": "ENST00000492281.5",
"protein_id": "ENSP00000418380.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "NVL",
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"hgvs_c": "c.131+121A>G",
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"transcript": "ENST00000461546.2",
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"cds_start": -4,
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},
{
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"strand": false,
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],
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"transcript": "ENST00000436927.5",
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},
{
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],
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "NVL",
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"hgvs_c": "n.131+121A>G",
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"transcript": "ENST00000467882.5",
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},
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],
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "NVL",
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"hgvs_c": "n.152+121A>G",
"hgvs_p": null,
"transcript": "ENST00000468673.5",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "NVL",
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"hgvs_c": "n.117+3801A>G",
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"transcript": "ENST00000470903.5",
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],
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},
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],
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},
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],
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"gene_symbol": "NVL",
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"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "XM_017001378.2",
"protein_id": "XP_016856867.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.131+121A>G",
"hgvs_p": null,
"transcript": "XM_017001379.2",
"protein_id": "XP_016856868.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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