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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: 8-32595960-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32595960&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 32595960,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013964.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_013964.5",
"protein_id": "NP_039258.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 640,
"cds_start": 233,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "ENST00000405005.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000405005.8",
"protein_id": "ENSP00000384620.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 640,
"cds_start": 233,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "NM_013964.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000287842.7",
"protein_id": "ENSP00000287842.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 645,
"cds_start": 233,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000356819.7",
"protein_id": "ENSP00000349275.6",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 637,
"cds_start": 233,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000521670.5",
"protein_id": "ENSP00000428828.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 462,
"cds_start": 233,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.878A>T",
"hgvs_p": "p.Asn293Ile",
"transcript": "ENST00000520407.5",
"protein_id": "ENSP00000434640.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 422,
"cds_start": 878,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.437A>T",
"hgvs_p": "p.Asn146Ile",
"transcript": "ENST00000523534.5",
"protein_id": "ENSP00000429067.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 713,
"cds_start": 437,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_013956.5",
"protein_id": "NP_039250.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 645,
"cds_start": 233,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 11998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_013957.5",
"protein_id": "NP_039251.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 637,
"cds_start": 233,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.170A>T",
"hgvs_p": "p.Asn57Ile",
"transcript": "NM_001159999.3",
"protein_id": "NP_001153471.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 624,
"cds_start": 170,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 11669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.170A>T",
"hgvs_p": "p.Asn57Ile",
"transcript": "ENST00000650866.1",
"protein_id": "ENSP00000499045.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 624,
"cds_start": 170,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.170A>T",
"hgvs_p": "p.Asn57Ile",
"transcript": "NM_001159995.3",
"protein_id": "NP_001153467.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 607,
"cds_start": 170,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 11618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.170A>T",
"hgvs_p": "p.Asn57Ile",
"transcript": "ENST00000652698.1",
"protein_id": "ENSP00000499008.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 607,
"cds_start": 170,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 11618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.170A>T",
"hgvs_p": "p.Asn57Ile",
"transcript": "NM_001160001.3",
"protein_id": "NP_001153473.1",
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"aa_start": 57,
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"cdna_start": 320,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.170A>T",
"hgvs_p": "p.Asn57Ile",
"transcript": "ENST00000519301.6",
"protein_id": "ENSP00000429582.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 590,
"cds_start": 170,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_013960.5",
"protein_id": "NP_039254.1",
"transcript_support_level": null,
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"cds_start": 233,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.347A>T",
"hgvs_p": "p.Asn116Ile",
"transcript": "ENST00000652588.1",
"protein_id": "ENSP00000498367.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 461,
"cds_start": 347,
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"cds_length": 1386,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_001160004.3",
"protein_id": "NP_001153476.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 459,
"cds_start": 233,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 649,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000650980.1",
"protein_id": "ENSP00000498583.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 459,
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"cdna_start": 298,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.878A>T",
"hgvs_p": "p.Asn293Ile",
"transcript": "NM_013962.3",
"protein_id": "NP_039256.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 422,
"cds_start": 878,
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"cdna_start": 1318,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_001160008.2",
"protein_id": "NP_001153480.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 420,
"cds_start": 233,
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"cdna_start": 649,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000523079.5",
"protein_id": "ENSP00000430120.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 420,
"cds_start": 233,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.203A>T",
"hgvs_p": "p.Asn68Ile",
"transcript": "ENST00000651335.1",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}