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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: 4-155730112-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155730112&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GUCY1A1",
"hgnc_id": 4685,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000856.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105377506",
"hgnc_id": null,
"hgvs_c": "n.675-2136C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "XR_007058483.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.9059,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8910611271858215,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9205,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001130682.3",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000506455.6",
"protein_coding": true,
"protein_id": "NP_001124154.1",
"strand": true,
"transcript": "NM_001130682.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9205,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000506455.6",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130682.3",
"protein_coding": true,
"protein_id": "ENSP00000424361.1",
"strand": true,
"transcript": "ENST00000506455.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000296518.11",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296518.7",
"strand": true,
"transcript": "ENST00000296518.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000511108.5",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421493.1",
"strand": true,
"transcript": "ENST00000511108.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000513574.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426040.1",
"strand": true,
"transcript": "ENST00000513574.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 432,
"aa_ref": "G",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000393832.7",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377418.3",
"strand": true,
"transcript": "ENST00000393832.7",
"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": 4352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000443668.6",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "n.*1397G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409903.2",
"strand": true,
"transcript": "ENST00000443668.6",
"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": 1282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000515201.5",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "n.*326G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422141.1",
"strand": true,
"transcript": "ENST00000515201.5",
"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": 4352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000443668.6",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "n.*1397G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409903.2",
"strand": true,
"transcript": "ENST00000443668.6",
"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": 1282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000515201.5",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "n.*326G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422141.1",
"strand": true,
"transcript": "ENST00000515201.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9299,
"cdna_start": 2352,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000856.6",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000847.2",
"strand": true,
"transcript": "NM_000856.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9460,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001130683.4",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124155.1",
"strand": true,
"transcript": "NM_001130683.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9284,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001130684.3",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124156.1",
"strand": true,
"transcript": "NM_001130684.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9389,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001256449.2",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243378.1",
"strand": true,
"transcript": "NM_001256449.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9155,
"cdna_start": 2208,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001379666.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366595.1",
"strand": true,
"transcript": "NM_001379666.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9410,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001379667.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366596.1",
"strand": true,
"transcript": "NM_001379667.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 690,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9439,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001379668.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366597.1",
"strand": true,
"transcript": "NM_001379668.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9960,
"cdna_start": 3013,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001379669.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366598.1",
"strand": true,
"transcript": "NM_001379669.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9180,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001379670.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366599.1",
"strand": true,
"transcript": "NM_001379670.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9705,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001379671.1",
"gene_hgnc_id": 4685,
"gene_symbol": "GUCY1A1",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366600.1",
"strand": true,
"transcript": "NM_001379671.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
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