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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: 8-32548756-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32548756&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 32548756,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013964.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_013964.5",
"protein_id": "NP_039258.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 640,
"cds_start": 30,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "ENST00000405005.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000405005.8",
"protein_id": "ENSP00000384620.2",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 640,
"cds_start": 30,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "NM_013964.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000287842.7",
"protein_id": "ENSP00000287842.4",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 645,
"cds_start": 30,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000356819.7",
"protein_id": "ENSP00000349275.6",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 637,
"cds_start": 30,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000521670.5",
"protein_id": "ENSP00000428828.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 462,
"cds_start": 30,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 1769,
"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": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.746-47072A>C",
"hgvs_p": null,
"transcript": "ENST00000520407.5",
"protein_id": "ENSP00000434640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_013956.5",
"protein_id": "NP_039250.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 645,
"cds_start": 30,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 11998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_013957.5",
"protein_id": "NP_039251.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 637,
"cds_start": 30,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_013960.5",
"protein_id": "NP_039254.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 462,
"cds_start": 30,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 12125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000652588.1",
"protein_id": "ENSP00000498367.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 461,
"cds_start": 30,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_001160004.3",
"protein_id": "NP_001153476.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 459,
"cds_start": 30,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 12116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000650980.1",
"protein_id": "ENSP00000498583.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 459,
"cds_start": 30,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 95,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_001160008.2",
"protein_id": "NP_001153480.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 420,
"cds_start": 30,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000523079.5",
"protein_id": "ENSP00000430120.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 420,
"cds_start": 30,
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"cdna_start": 547,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_013958.4",
"protein_id": "NP_039252.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 241,
"cds_start": 30,
"cds_end": null,
"cds_length": 726,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000650919.1",
"protein_id": "ENSP00000498811.1",
"transcript_support_level": null,
"aa_start": 10,
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"cds_start": 30,
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"cdna_start": 522,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_004495.4",
"protein_id": "NP_004486.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
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"cds_start": 30,
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"cds_length": 636,
"cdna_start": 446,
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"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_001160005.2",
"protein_id": "NP_001153477.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 207,
"cds_start": 30,
"cds_end": null,
"cds_length": 624,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "ENST00000650967.1",
"protein_id": "ENSP00000498833.1",
"transcript_support_level": null,
"aa_start": 10,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_001160002.2",
"protein_id": "NP_001153474.1",
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"aa_start": 10,
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"cds_start": 30,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "NM_001160007.2",
"protein_id": "NP_001153479.1",
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"aa_start": 10,
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"cds_start": 30,
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"cdna_start": 446,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Lys10Asn",
"transcript": "XM_017013368.3",
"protein_id": "XP_016868857.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 611,
"cds_start": 30,
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"cds_length": 1836,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 11896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "n.27A>C",
"hgvs_p": null,
"transcript": "ENST00000650964.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"pathogenicity_classification_combined": "not provided",
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}
],
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}