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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: 4-5804735-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=5804735&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "EVC",
"hgnc_id": 3497,
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"inheritance_mode": "AR,Unknown,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_153717.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CRMP1",
"hgnc_id": 2365,
"hgvs_c": "n.1647+20759_1647+20760dupTC",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000506216.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6427,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_153717.3",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264956.11",
"protein_coding": true,
"protein_id": "NP_714928.1",
"strand": true,
"transcript": "NM_153717.3",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6427,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000264956.11",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153717.3",
"protein_coding": true,
"protein_id": "ENSP00000264956.6",
"strand": true,
"transcript": "ENST00000264956.11",
"transcript_support_level": 1
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 991,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6424,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001306090.2",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293019.1",
"strand": true,
"transcript": "NM_001306090.2",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 991,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000861182.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531241.1",
"strand": true,
"transcript": "ENST00000861182.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 945,
"aa_ref": "R",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2319,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000960562.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2317_2318dupAG",
"hgvs_p": "p.Met774fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630621.1",
"strand": true,
"transcript": "ENST00000960562.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13268,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449769.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305725.1",
"strand": true,
"transcript": "XM_047449769.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449770.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305726.1",
"strand": true,
"transcript": "XM_047449770.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7537,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449771.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305727.1",
"strand": true,
"transcript": "XM_047449771.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7192,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449772.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305728.1",
"strand": true,
"transcript": "XM_047449772.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12617,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449773.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305729.1",
"strand": true,
"transcript": "XM_047449773.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16397,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449774.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305730.1",
"strand": true,
"transcript": "XM_047449774.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11121,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449775.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305731.1",
"strand": true,
"transcript": "XM_047449775.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12433,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449776.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305732.1",
"strand": true,
"transcript": "XM_047449776.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12571,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449777.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305733.1",
"strand": true,
"transcript": "XM_047449777.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12755,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449778.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305734.1",
"strand": true,
"transcript": "XM_047449778.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11835,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449779.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305735.1",
"strand": true,
"transcript": "XM_047449779.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11973,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449780.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305736.1",
"strand": true,
"transcript": "XM_047449780.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12715,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449781.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305737.1",
"strand": true,
"transcript": "XM_047449781.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7493,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449782.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305738.1",
"strand": true,
"transcript": "XM_047449782.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11077,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2457,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047449783.1",
"gene_hgnc_id": 3497,
"gene_symbol": "EVC",
"hgvs_c": "c.2455_2456dupAG",
"hgvs_p": "p.Met820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305739.1",
"strand": true,
"transcript": "XM_047449783.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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