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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: 11-57614474-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57614474&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57614474,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000062.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "NM_000062.3",
"protein_id": "NP_000053.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278407.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000062.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000278407.9",
"protein_id": "ENSP00000278407.4",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000062.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278407.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"transcript": "ENST00000619430.2",
"protein_id": "ENSP00000478572.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 432,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619430.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*765C>T",
"hgvs_p": null,
"transcript": "ENST00000531133.5",
"protein_id": "ENSP00000435431.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531133.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*421C>T",
"hgvs_p": null,
"transcript": "ENST00000531797.5",
"protein_id": "ENSP00000432554.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531797.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*765C>T",
"hgvs_p": null,
"transcript": "ENST00000531133.5",
"protein_id": "ENSP00000435431.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531133.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*421C>T",
"hgvs_p": null,
"transcript": "ENST00000531797.5",
"protein_id": "ENSP00000432554.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531797.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000403558.1",
"protein_id": "ENSP00000384420.1",
"transcript_support_level": 5,
"aa_start": 509,
"aa_end": null,
"aa_length": 543,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403558.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000879480.1",
"protein_id": "ENSP00000549539.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 533,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879480.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Cys",
"transcript": "ENST00000879475.1",
"protein_id": "ENSP00000549534.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 511,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879475.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Cys",
"transcript": "ENST00000879473.1",
"protein_id": "ENSP00000549532.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 509,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879473.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"transcript": "ENST00000378323.8",
"protein_id": "ENSP00000367574.4",
"transcript_support_level": 2,
"aa_start": 471,
"aa_end": null,
"aa_length": 505,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378323.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"transcript": "ENST00000879485.1",
"protein_id": "ENSP00000549544.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 505,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879485.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"transcript": "ENST00000879488.1",
"protein_id": "ENSP00000549547.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 505,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879488.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "NM_001032295.2",
"protein_id": "NP_001027466.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032295.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000676670.1",
"protein_id": "ENSP00000504807.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676670.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000879467.1",
"protein_id": "ENSP00000549526.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879467.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000879468.1",
"protein_id": "ENSP00000549527.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879468.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000879469.1",
"protein_id": "ENSP00000549528.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879469.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000879474.1",
"protein_id": "ENSP00000549533.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879474.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000879477.1",
"protein_id": "ENSP00000549536.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879477.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys",
"transcript": "ENST00000879479.1",
"protein_id": "ENSP00000549538.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 500,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1503,
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],
"gene_symbol": "SERPING1",
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"dbsnp": "rs28940870",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9516597390174866,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.721,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8438,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.231,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000062.3",
"gene_symbol": "SERPING1",
"hgnc_id": 1228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Cys"
}
],
"clinvar_disease": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor,Hereditary angioedema type 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 O:1",
"phenotype_combined": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor|not provided|Hereditary angioedema type 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}