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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: 11-57600377-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57600377&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SERPING1",
"hgnc_id": 1228,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"inheritance_mode": "AD,SD",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_000062.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9597,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "11",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Hereditary angioedema type 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9926415681838989,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000062.3",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278407.9",
"protein_coding": true,
"protein_id": "NP_000053.2",
"strand": true,
"transcript": "NM_000062.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000278407.9",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000062.3",
"protein_coding": true,
"protein_id": "ENSP00000278407.4",
"strand": true,
"transcript": "ENST00000278407.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 432,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1299,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000619430.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478572.2",
"strand": true,
"transcript": "ENST00000619430.2",
"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": 1004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531133.5",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.52-1658G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435431.1",
"strand": true,
"transcript": "ENST00000531133.5",
"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": 907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531797.5",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.52-1658G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432554.1",
"strand": true,
"transcript": "ENST00000531797.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 533,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1602,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879480.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549539.1",
"strand": true,
"transcript": "ENST00000879480.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 543,
"aa_ref": "G",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1632,
"cds_start": 652,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000403558.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384420.1",
"strand": true,
"transcript": "ENST00000403558.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1536,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879475.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549534.1",
"strand": true,
"transcript": "ENST00000879475.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1530,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879473.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549532.1",
"strand": true,
"transcript": "ENST00000879473.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 505,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 622,
"cds_end": null,
"cds_length": 1518,
"cds_start": 565,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378323.8",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367574.4",
"strand": true,
"transcript": "ENST00000378323.8",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 505,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1518,
"cds_start": 565,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879485.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549544.1",
"strand": true,
"transcript": "ENST00000879485.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 505,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1518,
"cds_start": 565,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879488.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549547.1",
"strand": true,
"transcript": "ENST00000879488.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001032295.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027466.1",
"strand": true,
"transcript": "NM_001032295.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676670.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504807.1",
"strand": true,
"transcript": "ENST00000676670.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879467.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549526.1",
"strand": true,
"transcript": "ENST00000879467.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879468.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549527.1",
"strand": true,
"transcript": "ENST00000879468.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879469.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549528.1",
"strand": true,
"transcript": "ENST00000879469.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879474.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549533.1",
"strand": true,
"transcript": "ENST00000879474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879477.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549536.1",
"strand": true,
"transcript": "ENST00000879477.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1503,
"cds_start": 550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879479.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549538.1",
"strand": true,
"transcript": "ENST00000879479.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "G",
"aa_start": 184,
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]
}