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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: 17-44911241-CT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44911241&ref=CT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GFAP",
"hgnc_id": 4235,
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001363846.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM5,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "G",
"aa_end": null,
"aa_length": 432,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002055.5",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000588735.3",
"protein_coding": true,
"protein_id": "NP_002046.1",
"strand": false,
"transcript": "NM_002055.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 432,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588735.3",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002055.5",
"protein_coding": true,
"protein_id": "ENSP00000466598.2",
"strand": false,
"transcript": "ENST00000588735.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000585543.6",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "n.274_275delAGinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585543.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591327.2",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "n.2275_2276delAGinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000591327.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 505,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639277.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492432.1",
"strand": false,
"transcript": "ENST00000639277.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 472,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363846.2",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350775.1",
"strand": false,
"transcript": "NM_001363846.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 472,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000253408.11",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253408.5",
"strand": false,
"transcript": "ENST00000253408.11",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 440,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867443.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537502.1",
"strand": false,
"transcript": "ENST00000867443.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001242376.3",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229305.1",
"strand": false,
"transcript": "NM_001242376.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638281.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491088.1",
"strand": false,
"transcript": "ENST00000638281.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 431,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001131019.3",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124491.1",
"strand": false,
"transcript": "NM_001131019.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 431,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435360.8",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403962.1",
"strand": false,
"transcript": "ENST00000435360.8",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 431,
"aa_ref": "E",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867442.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1118_1119delAGinsGC",
"hgvs_p": "p.Glu373Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537501.1",
"strand": false,
"transcript": "ENST00000867442.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 429,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867445.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1121_1122delAGinsGC",
"hgvs_p": "p.Glu374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537504.1",
"strand": false,
"transcript": "ENST00000867445.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867444.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.1100_1101delAGinsGC",
"hgvs_p": "p.Glu367Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537503.1",
"strand": false,
"transcript": "ENST00000867444.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 344,
"aa_ref": "E",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1035,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867446.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.857_858delAGinsGC",
"hgvs_p": "p.Glu286Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537505.1",
"strand": false,
"transcript": "ENST00000867446.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 333,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1018,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1004,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586793.6",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.986_987delAGinsGC",
"hgvs_p": "p.Glu329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468500.2",
"strand": false,
"transcript": "ENST00000586793.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 326,
"aa_ref": "E",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": 777,
"cds_end": null,
"cds_length": 981,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638618.1",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.776_777delAGinsGC",
"hgvs_p": "p.Glu259Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492832.1",
"strand": false,
"transcript": "ENST00000638618.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 247,
"aa_ref": "E",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": 717,
"cds_end": null,
"cds_length": 745,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592320.6",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.698_699delAGinsGC",
"hgvs_p": "p.Glu233Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465320.1",
"strand": false,
"transcript": "ENST00000592320.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 124,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 57,
"cds_end": null,
"cds_length": 375,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586125.2",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.56_57delAGinsGC",
"hgvs_p": "p.Glu19Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467397.2",
"strand": false,
"transcript": "ENST00000586125.2",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 74,
"aa_ref": "E",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1103,
"cdna_start": 52,
"cds_end": null,
"cds_length": 225,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591880.2",
"gene_hgnc_id": 4235,
"gene_symbol": "GFAP",
"hgvs_c": "c.50_51delAGinsGC",
"hgvs_p": "p.Glu17Gly",
"intron_rank": null,
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