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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: 7-139402197-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139402197&ref=A&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": "FMC1-LUC7L2",
"hgnc_id": 44671,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001244584.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LUC7L2",
"hgnc_id": 21608,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_016019.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8653,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5565776824951172,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 392,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1179,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016019.5",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354926.9",
"protein_coding": true,
"protein_id": "NP_057103.2",
"strand": true,
"transcript": "NM_016019.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 392,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1179,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000354926.9",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016019.5",
"protein_coding": true,
"protein_id": "ENSP00000347005.4",
"strand": true,
"transcript": "ENST00000354926.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 458,
"aa_ref": "K",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1377,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000541515.3",
"gene_hgnc_id": 44671,
"gene_symbol": "FMC1-LUC7L2",
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440222.1",
"strand": true,
"transcript": "ENST00000541515.3",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 391,
"aa_ref": "K",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1176,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000619796.4",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Lys105Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483438.1",
"strand": true,
"transcript": "ENST00000619796.4",
"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": 2411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000456182.5",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "n.*135A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393012.1",
"strand": true,
"transcript": "ENST00000456182.5",
"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": 2411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000456182.5",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "n.*135A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393012.1",
"strand": true,
"transcript": "ENST00000456182.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 466,
"aa_ref": "K",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1401,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867366.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Lys180Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537425.1",
"strand": true,
"transcript": "ENST00000867366.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 458,
"aa_ref": "K",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1377,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001244584.3",
"gene_hgnc_id": 44671,
"gene_symbol": "FMC1-LUC7L2",
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Lys172Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231513.1",
"strand": true,
"transcript": "NM_001244584.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 447,
"aa_ref": "K",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1344,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947909.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Lys161Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617968.1",
"strand": true,
"transcript": "ENST00000947909.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "K",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1200,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947908.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Lys113Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617967.1",
"strand": true,
"transcript": "ENST00000947908.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 392,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4747,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1179,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867360.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537419.1",
"strand": true,
"transcript": "ENST00000867360.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 391,
"aa_ref": "K",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1176,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270643.2",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Lys105Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257572.1",
"strand": true,
"transcript": "NM_001270643.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 391,
"aa_ref": "K",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1176,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933629.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Lys105Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603688.1",
"strand": true,
"transcript": "ENST00000933629.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 390,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1173,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867362.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537421.1",
"strand": true,
"transcript": "ENST00000867362.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 389,
"aa_ref": "K",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 378,
"cds_end": null,
"cds_length": 1170,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001244585.2",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Lys103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231514.1",
"strand": true,
"transcript": "NM_001244585.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 389,
"aa_ref": "K",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1170,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263545.7",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Lys103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263545.7",
"strand": true,
"transcript": "ENST00000263545.7",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 389,
"aa_ref": "K",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1170,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000541170.7",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Lys103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441604.1",
"strand": true,
"transcript": "ENST00000541170.7",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 388,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 658,
"cds_end": null,
"cds_length": 1167,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867367.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537426.1",
"strand": true,
"transcript": "ENST00000867367.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 382,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1149,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867365.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537424.1",
"strand": true,
"transcript": "ENST00000867365.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 362,
"aa_ref": "K",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 622,
"cds_end": null,
"cds_length": 1089,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867364.1",
"gene_hgnc_id": 21608,
"gene_symbol": "LUC7L2",
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Lys106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537423.1",
"strand": true,
"transcript": "ENST00000867364.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 359,
"aa_ref": "K",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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