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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: 1-167063658-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167063658&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167063658,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005814.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn",
"transcript": "NM_005814.3",
"protein_id": "NP_005805.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 319,
"cds_start": 495,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367868.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005814.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn",
"transcript": "ENST00000367868.4",
"protein_id": "ENSP00000356842.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 319,
"cds_start": 495,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005814.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367868.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.687G>T",
"hgvs_p": "p.Lys229Asn",
"transcript": "ENST00000903072.1",
"protein_id": "ENSP00000573131.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 383,
"cds_start": 687,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903072.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.681G>T",
"hgvs_p": "p.Lys227Asn",
"transcript": "ENST00000903065.1",
"protein_id": "ENSP00000573124.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 381,
"cds_start": 681,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903065.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.600G>T",
"hgvs_p": "p.Lys200Asn",
"transcript": "ENST00000903068.1",
"protein_id": "ENSP00000573127.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 354,
"cds_start": 600,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903068.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn",
"transcript": "ENST00000903066.1",
"protein_id": "ENSP00000573125.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 346,
"cds_start": 495,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903066.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn",
"transcript": "ENST00000903070.1",
"protein_id": "ENSP00000573129.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 344,
"cds_start": 495,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903070.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.558G>T",
"hgvs_p": "p.Lys186Asn",
"transcript": "ENST00000903067.1",
"protein_id": "ENSP00000573126.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 340,
"cds_start": 558,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903067.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn",
"transcript": "ENST00000903071.1",
"protein_id": "ENSP00000573130.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 335,
"cds_start": 495,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903071.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn",
"transcript": "ENST00000903063.1",
"protein_id": "ENSP00000573122.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 319,
"cds_start": 495,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903063.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Lys159Asn",
"transcript": "ENST00000903069.1",
"protein_id": "ENSP00000573128.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 477,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903069.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.171G>T",
"hgvs_p": "p.Lys57Asn",
"transcript": "ENST00000632571.1",
"protein_id": "ENSP00000488407.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 65,
"cds_start": 171,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000632571.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.171G>T",
"hgvs_p": "p.Lys57Asn",
"transcript": "XM_017000005.2",
"protein_id": "XP_016855494.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 211,
"cds_start": 171,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000005.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.171G>T",
"hgvs_p": "p.Lys57Asn",
"transcript": "XM_047424480.1",
"protein_id": "XP_047280436.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 211,
"cds_start": 171,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "c.415+5264G>T",
"hgvs_p": null,
"transcript": "ENST00000903064.1",
"protein_id": "ENSP00000573123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "n.586G>T",
"hgvs_p": null,
"transcript": "ENST00000527955.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000527955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPA33-AS1",
"gene_hgnc_id": 58358,
"hgvs_c": "n.545+541C>A",
"hgvs_p": null,
"transcript": "XR_922249.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_922249.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"hgvs_c": "n.*316G>T",
"hgvs_p": null,
"transcript": "ENST00000534512.1",
"protein_id": "ENSP00000431195.1",
"transcript_support_level": 4,
"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": "ENST00000534512.1"
}
],
"gene_symbol": "GPA33",
"gene_hgnc_id": 4445,
"dbsnp": "rs2228399",
"frequency_reference_population": 0.002812366,
"hom_count_reference_population": 110,
"allele_count_reference_population": 4538,
"gnomad_exomes_af": 0.00148359,
"gnomad_genomes_af": 0.0155645,
"gnomad_exomes_ac": 2168,
"gnomad_genomes_ac": 2370,
"gnomad_exomes_homalt": 52,
"gnomad_genomes_homalt": 58,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001996934413909912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.2234,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.163,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005814.3",
"gene_symbol": "GPA33",
"hgnc_id": 4445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Lys165Asn"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_922249.3",
"gene_symbol": "GPA33-AS1",
"hgnc_id": 58358,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.545+541C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}