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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: 14-64427383-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64427383&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTHFD1",
"hgnc_id": 7432,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001364837.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258824",
"hgnc_id": null,
"hgvs_c": "n.506-4404C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000556640.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9905,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9918707609176636,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 935,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 2808,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_005956.4",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652337.1",
"protein_coding": true,
"protein_id": "NP_005947.3",
"strand": true,
"transcript": "NM_005956.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 935,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 2808,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000652337.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005956.4",
"protein_coding": true,
"protein_id": "ENSP00000498336.1",
"strand": true,
"transcript": "ENST00000652337.1",
"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": 2053,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555252.5",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "n.1231G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555252.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 964,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001364837.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351766.1",
"strand": true,
"transcript": "NM_001364837.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 964,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6814,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000545908.6",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438588.2",
"strand": true,
"transcript": "ENST00000545908.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 962,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900031.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570090.1",
"strand": true,
"transcript": "ENST00000900031.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 952,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000940490.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610549.1",
"strand": true,
"transcript": "ENST00000940490.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 935,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4581,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 2808,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000940495.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610554.1",
"strand": true,
"transcript": "ENST00000940495.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 935,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 2808,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000941180.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611239.1",
"strand": true,
"transcript": "ENST00000941180.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 932,
"aa_ref": "G",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900023.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Gly389Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570082.1",
"strand": true,
"transcript": "ENST00000900023.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 922,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3082,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000557370.3",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477199.2",
"strand": true,
"transcript": "ENST00000557370.3",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 912,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900025.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570084.1",
"strand": true,
"transcript": "ENST00000900025.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 888,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000940494.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610553.1",
"strand": true,
"transcript": "ENST00000940494.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 886,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000940489.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610548.1",
"strand": true,
"transcript": "ENST00000940489.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 884,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000697168.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513156.1",
"strand": true,
"transcript": "ENST00000697168.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 884,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3041,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000940486.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610545.1",
"strand": true,
"transcript": "ENST00000940486.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 865,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000940485.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Gly392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610544.1",
"strand": true,
"transcript": "ENST00000940485.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 855,
"aa_ref": "G",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 2568,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900024.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570083.1",
"strand": true,
"transcript": "ENST00000900024.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 854,
"aa_ref": "G",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2565,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000554768.6",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477501.2",
"strand": true,
"transcript": "ENST00000554768.6",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "G",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 2565,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000557539.2",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476468.2",
"strand": true,
"transcript": "ENST00000557539.2",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "G",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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