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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: 5-139847992-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139847992&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NRG2",
"hgnc_id": 7998,
"hgvs_c": "c.2501_2502delGCinsAT",
"hgvs_p": "p.Ser834Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_013982.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 850,
"aa_ref": "S",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004883.3",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2477_2478delGCinsAT",
"hgvs_p": "p.Ser826Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361474.6",
"protein_coding": true,
"protein_id": "NP_004874.1",
"strand": false,
"transcript": "NM_004883.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 850,
"aa_ref": "S",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361474.6",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2477_2478delGCinsAT",
"hgvs_p": "p.Ser826Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004883.3",
"protein_coding": true,
"protein_id": "ENSP00000354910.1",
"strand": false,
"transcript": "ENST00000361474.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 852,
"aa_ref": "S",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2483,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358522.7",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2483_2484delGCinsAT",
"hgvs_p": "p.Ser828Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351323.3",
"strand": false,
"transcript": "ENST00000358522.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013982.3",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2501_2502delGCinsAT",
"hgvs_p": "p.Ser834Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_053585.1",
"strand": false,
"transcript": "NM_013982.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000289422.11",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2501_2502delGCinsAT",
"hgvs_p": "p.Ser834Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000289422.7",
"strand": false,
"transcript": "ENST00000289422.11",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 852,
"aa_ref": "S",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2483,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013983.3",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2483_2484delGCinsAT",
"hgvs_p": "p.Ser828Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_053586.1",
"strand": false,
"transcript": "NM_013983.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 844,
"aa_ref": "S",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013981.4",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2459_2460delGCinsAT",
"hgvs_p": "p.Ser820Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_053584.1",
"strand": false,
"transcript": "NM_013981.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 844,
"aa_ref": "S",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000289409.8",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2459_2460delGCinsAT",
"hgvs_p": "p.Ser820Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000289409.4",
"strand": false,
"transcript": "ENST00000289409.8",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 792,
"aa_ref": "S",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2303,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956720.1",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2303_2304delGCinsAT",
"hgvs_p": "p.Ser768Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626779.1",
"strand": false,
"transcript": "ENST00000956720.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 784,
"aa_ref": "S",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001184935.2",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2279_2280delGCinsAT",
"hgvs_p": "p.Ser760Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171864.1",
"strand": false,
"transcript": "NM_001184935.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 784,
"aa_ref": "S",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541337.5",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.2279_2280delGCinsAT",
"hgvs_p": "p.Ser760Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444235.1",
"strand": false,
"transcript": "ENST00000541337.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 647,
"aa_ref": "S",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410780.1",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.1868_1869delGCinsAT",
"hgvs_p": "p.Ser623Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397709.1",
"strand": false,
"transcript": "NM_001410780.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 647,
"aa_ref": "S",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340391.8",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.1868_1869delGCinsAT",
"hgvs_p": "p.Ser623Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342660.3",
"strand": false,
"transcript": "ENST00000340391.8",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 467,
"aa_ref": "S",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417897.1",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.1328_1329delGCinsAT",
"hgvs_p": "p.Ser443Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273853.1",
"strand": false,
"transcript": "XM_047417897.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 459,
"aa_ref": "S",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005268533.5",
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"hgvs_c": "c.1304_1305delGCinsAT",
"hgvs_p": "p.Ser435Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268590.1",
"strand": false,
"transcript": "XM_005268533.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7998,
"gene_symbol": "NRG2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.052,
"pos": 139847992,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_013982.3"
}
]
}