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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: 18-57688361-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57688361&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP8B1",
"hgnc_id": 3706,
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_005603.6",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATP8B1-AS1",
"hgnc_id": 56042,
"hgvs_c": "n.571-43053G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000588925.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.9941,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "18",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Progressive familial intrahepatic cholestasis type 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.970179557800293,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6161,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001374385.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000648908.2",
"protein_coding": true,
"protein_id": "NP_001361314.1",
"strand": false,
"transcript": "NM_001374385.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6161,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000648908.2",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374385.1",
"protein_coding": true,
"protein_id": "ENSP00000497896.1",
"strand": false,
"transcript": "ENST00000648908.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_005603.6",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005594.2",
"strand": false,
"transcript": "NM_005603.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6329,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000857621.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527680.1",
"strand": false,
"transcript": "ENST00000857621.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857625.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527684.1",
"strand": false,
"transcript": "ENST00000857625.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857626.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527685.1",
"strand": false,
"transcript": "ENST00000857626.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857628.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527687.1",
"strand": false,
"transcript": "ENST00000857628.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000857629.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527688.1",
"strand": false,
"transcript": "ENST00000857629.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000938298.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608357.1",
"strand": false,
"transcript": "ENST00000938298.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967608.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637667.1",
"strand": false,
"transcript": "ENST00000967608.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967609.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637668.1",
"strand": false,
"transcript": "ENST00000967609.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5942,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967610.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637669.1",
"strand": false,
"transcript": "ENST00000967610.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5923,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 3756,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967611.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637670.1",
"strand": false,
"transcript": "ENST00000967611.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "T",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 3690,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967607.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637666.1",
"strand": false,
"transcript": "ENST00000967607.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857622.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Thr418Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527681.1",
"strand": false,
"transcript": "ENST00000857622.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5856,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857623.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Thr418Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527682.1",
"strand": false,
"transcript": "ENST00000857623.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1213,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6374,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967606.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Thr418Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637665.1",
"strand": false,
"transcript": "ENST00000967606.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "T",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6063,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 3606,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001374386.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Thr406Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361315.1",
"strand": false,
"transcript": "NM_001374386.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "T",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5702,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 3543,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000857624.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Thr385Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527683.1",
"strand": false,
"transcript": "ENST00000857624.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "T",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 3543,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000857627.1",
"gene_hgnc_id": 3706,
"gene_symbol": "ATP8B1",
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Thr385Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527686.1",
"strand": false,
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