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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: 8-47961149-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47961149&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MCM4",
"hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_005914.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.7239,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6471832990646362,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 863,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 93,
"cds_end": null,
"cds_length": 2592,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_182746.3",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649973.1",
"protein_coding": true,
"protein_id": "NP_877423.1",
"strand": true,
"transcript": "NM_182746.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 863,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 93,
"cds_end": null,
"cds_length": 2592,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000649973.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182746.3",
"protein_coding": true,
"protein_id": "ENSP00000496964.1",
"strand": true,
"transcript": "ENST00000649973.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 863,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": 214,
"cds_end": null,
"cds_length": 2592,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000262105.6",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262105.2",
"strand": true,
"transcript": "ENST00000262105.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 904,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 136,
"cds_end": null,
"cds_length": 2715,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000649838.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497648.1",
"strand": true,
"transcript": "ENST00000649838.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 904,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 193,
"cds_end": null,
"cds_length": 2715,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000936720.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606779.1",
"strand": true,
"transcript": "ENST00000936720.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 871,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 100,
"cds_end": null,
"cds_length": 2616,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936718.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606777.1",
"strand": true,
"transcript": "ENST00000936718.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 146,
"cds_end": null,
"cds_length": 2610,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000884674.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554733.1",
"strand": true,
"transcript": "ENST00000884674.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 127,
"cds_end": null,
"cds_length": 2610,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936717.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606776.1",
"strand": true,
"transcript": "ENST00000936717.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 863,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 209,
"cds_end": null,
"cds_length": 2592,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005914.4",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005905.2",
"strand": true,
"transcript": "NM_005914.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 136,
"cds_end": null,
"cds_length": 2577,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884671.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554730.1",
"strand": true,
"transcript": "ENST00000884671.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 858,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2577,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000884672.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554731.1",
"strand": true,
"transcript": "ENST00000884672.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 838,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 117,
"cds_end": null,
"cds_length": 2517,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936721.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606780.1",
"strand": true,
"transcript": "ENST00000936721.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 831,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2496,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884673.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554732.1",
"strand": true,
"transcript": "ENST00000884673.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 814,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": 86,
"cds_end": null,
"cds_length": 2445,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936722.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606781.1",
"strand": true,
"transcript": "ENST00000936722.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 749,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 12,
"cds_end": null,
"cds_length": 2250,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000650216.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497093.1",
"strand": true,
"transcript": "ENST00000650216.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 742,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 136,
"cds_end": null,
"cds_length": 2229,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000648407.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497881.1",
"strand": true,
"transcript": "ENST00000648407.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 717,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 97,
"cds_end": null,
"cds_length": 2154,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936719.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606778.1",
"strand": true,
"transcript": "ENST00000936719.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 394,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 12,
"cds_end": null,
"cds_length": 1185,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000697122.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513122.1",
"strand": true,
"transcript": "ENST00000697122.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 139,
"aa_ref": "S",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 155,
"cds_end": null,
"cds_length": 422,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000518221.5",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430329.1",
"strand": true,
"transcript": "ENST00000518221.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 813,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": null,
"cds_end": null,
"cds_length": 2442,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649919.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "c.-81+135C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498202.1",
"strand": true,
"transcript": "ENST00000649919.1",
"transcript_support_level": null
},
{
"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": 522,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000520994.1",
"gene_hgnc_id": 6947,
"gene_symbol": "MCM4",
"hgvs_c": "n.85C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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}