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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: 1-151683443-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151683443&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SNX27",
"hgnc_id": 20073,
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Met413Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001330723.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_score": -3,
"allele_count_reference_population": 850,
"alphamissense_prediction": null,
"alphamissense_score": 0.1289,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Severe myoclonic epilepsy in infancy",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10815078020095825,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "M",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6441,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1237,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001330723.2",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Met413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000458013.7",
"protein_coding": true,
"protein_id": "NP_001317652.1",
"strand": true,
"transcript": "NM_001330723.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "M",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6441,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1237,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458013.7",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Met413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330723.2",
"protein_coding": true,
"protein_id": "ENSP00000400333.2",
"strand": true,
"transcript": "ENST00000458013.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "M",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7250,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1237,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000368843.8",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Met413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357836.3",
"strand": true,
"transcript": "ENST00000368843.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 393,
"aa_ref": "M",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2046,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1182,
"cds_start": 832,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000368838.2",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Met278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357831.2",
"strand": true,
"transcript": "ENST00000368838.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000368841.7",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "n.*908A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000357834.2",
"strand": true,
"transcript": "ENST00000368841.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000368841.7",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "n.*908A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000357834.2",
"strand": true,
"transcript": "ENST00000368841.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "M",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7218,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1237,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_030918.6",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Met413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112180.4",
"strand": true,
"transcript": "NM_030918.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 521,
"aa_ref": "M",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1237,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891333.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Met413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561392.1",
"strand": true,
"transcript": "ENST00000891333.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 506,
"aa_ref": "M",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1132,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891332.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.1132A>T",
"hgvs_p": "p.Met378Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561391.1",
"strand": true,
"transcript": "ENST00000891332.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 440,
"aa_ref": "M",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6138,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1323,
"cds_start": 934,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001437601.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.934A>T",
"hgvs_p": "p.Met312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424530.1",
"strand": true,
"transcript": "NM_001437601.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 440,
"aa_ref": "M",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1323,
"cds_start": 934,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891330.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.934A>T",
"hgvs_p": "p.Met312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561389.1",
"strand": true,
"transcript": "ENST00000891330.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 438,
"aa_ref": "M",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1317,
"cds_start": 928,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001437602.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.928A>T",
"hgvs_p": "p.Met310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424531.1",
"strand": true,
"transcript": "NM_001437602.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "M",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6915,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1284,
"cds_start": 934,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001437603.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.934A>T",
"hgvs_p": "p.Met312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424532.1",
"strand": true,
"transcript": "NM_001437603.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "M",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7147,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1278,
"cds_start": 928,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001437604.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.928A>T",
"hgvs_p": "p.Met310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424533.1",
"strand": true,
"transcript": "NM_001437604.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 420,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6078,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001437605.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424534.1",
"strand": true,
"transcript": "NM_001437605.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 420,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891331.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561390.1",
"strand": true,
"transcript": "ENST00000891331.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 407,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6855,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1224,
"cds_start": 874,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001437606.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424535.1",
"strand": true,
"transcript": "NM_001437606.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 407,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1224,
"cds_start": 874,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642376.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496645.1",
"strand": true,
"transcript": "ENST00000642376.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "M",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6209,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1068,
"cds_start": 679,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001437607.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.679A>T",
"hgvs_p": "p.Met227Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424536.1",
"strand": true,
"transcript": "NM_001437607.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 342,
"aa_ref": "M",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7087,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1029,
"cds_start": 679,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001437608.1",
"gene_hgnc_id": 20073,
"gene_symbol": "SNX27",
"hgvs_c": "c.679A>T",
"hgvs_p": "p.Met227Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424537.1",
"strand": true,
"transcript": "NM_001437608.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 238,
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