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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: 22-29740691-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29740691&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": "ZMAT5",
"hgnc_id": 28046,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_019103.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 32,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5572,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "22",
"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": 0.464052677154541,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 393,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001003692.2",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344318.4",
"protein_coding": true,
"protein_id": "NP_001003692.1",
"strand": false,
"transcript": "NM_001003692.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 393,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000344318.4",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001003692.2",
"protein_coding": true,
"protein_id": "ENSP00000344241.3",
"strand": false,
"transcript": "ENST00000344318.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": 316,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318129.2",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305058.1",
"strand": false,
"transcript": "NM_001318129.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 508,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019103.3",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061976.1",
"strand": false,
"transcript": "NM_019103.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 393,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890523.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560583.1",
"strand": false,
"transcript": "ENST00000890523.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 470,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890526.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560586.1",
"strand": false,
"transcript": "ENST00000890526.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 507,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890529.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560588.1",
"strand": false,
"transcript": "ENST00000890529.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 987,
"cdna_start": 435,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890530.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560589.1",
"strand": false,
"transcript": "ENST00000890530.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": 300,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890531.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560590.1",
"strand": false,
"transcript": "ENST00000890531.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": 403,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890533.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560593.1",
"strand": false,
"transcript": "ENST00000890533.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 413,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890536.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560597.1",
"strand": false,
"transcript": "ENST00000890536.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": 732,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890540.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560599.1",
"strand": false,
"transcript": "ENST00000890540.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": 364,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890542.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560601.1",
"strand": false,
"transcript": "ENST00000890542.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 455,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890544.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560605.1",
"strand": false,
"transcript": "ENST00000890544.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 450,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890548.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560608.1",
"strand": false,
"transcript": "ENST00000890548.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1003,
"cdna_start": 455,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890551.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560610.1",
"strand": false,
"transcript": "ENST00000890551.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": 430,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890552.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560611.1",
"strand": false,
"transcript": "ENST00000890552.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": 400,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890554.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560613.1",
"strand": false,
"transcript": "ENST00000890554.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890556.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560615.1",
"strand": false,
"transcript": "ENST00000890556.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890558.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560616.1",
"strand": false,
"transcript": "ENST00000890558.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "M",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": 382,
"cds_end": null,
"cds_length": 513,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922635.1",
"gene_hgnc_id": 28046,
"gene_symbol": "ZMAT5",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Met77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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